Canonical Allele Identifier: CA818754697

Gene: PHACTR1

Linked Data

• dbSNP Id: rs1343252104
• gnomAD v3: 6-12888764-C-A
• gnomAD v4: 6-12888764-C-A
• MyVariant Identifiers: chr6:g.12888996C>A (hg19) ; chr6:g.12888764C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.12888764C>A , CM000668.2:g.12888764C>A	GRCh38
NC_000006.11:g.12888996C>A , CM000668.1:g.12888996C>A	GRCh37
NC_000006.10:g.12996982C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000689397.1:n.2822-15330C>A
ENST00000689548.1:c.112+138974C>A	ENSP00000509837.1:n.112+138974C>A
ENST00000690071.1:n.431-13901C>A
ENST00000692662.1:n.408+138974C>A
ENST00000693693.1:n.1116+138974C>A
ENST00000332995.12:c.250+138974C>A MANE Select	ENSP00000329880.8:n.250+138974C>A
ENST00000379348.3:n.428-44869C>A
ENST00000406205.7:c.112+138974C>A	ENSP00000384760.3:n.112+138974C>A
ENST00000674595.1:c.250+138974C>A	ENSP00000502157.1:n.250+138974C>A
ENST00000674637.1:c.250+138974C>A	ENSP00000501634.1:n.250+138974C>A
ENST00000676159.1:c.250+138974C>A	ENSP00000501921.1:n.250+138974C>A
ENST00000332995.11:c.250+138974C>A	ENSP00000329880.8:n.250+138974C>A
ENST00000379348.2:c.251-44869C>A	ENSP00000368653.2:n.251-44869C>A
ENST00000379350.5:c.250+138974C>A	ENSP00000368655.1:n.250+138974C>A
ENST00000406205.6:c.356+138974C>A
NM_001242648.1:c.250+138974C>A	NP_001229577.1:n.250+138974C>A
NM_030948.2:c.250+138974C>A	NP_112210.1:n.250+138974C>A
XM_005248933.1:c.250+138974C>A	XP_005248990.1:n.250+138974C>A
XM_005248934.1:c.250+138974C>A	XP_005248991.1:n.250+138974C>A
XM_005248935.3:c.250+138974C>A	XP_005248992.1:n.250+138974C>A
XM_011514390.1:c.250+138974C>A	XP_011512692.1:n.250+138974C>A
NM_001242648.2:c.250+138974C>A	NP_001229577.1:n.250+138974C>A
NM_001322308.1:c.250+138974C>A	NP_001309237.1:n.250+138974C>A
NM_001322309.1:c.250+138974C>A	NP_001309238.1:n.250+138974C>A
NM_001322310.1:c.250+138974C>A	NP_001309239.1:n.250+138974C>A
NM_030948.3:c.250+138974C>A	NP_112210.1:n.250+138974C>A
XM_005248934.3:c.250+138974C>A	XP_005248991.1:n.250+138974C>A
XM_017010454.2:c.250+138974C>A	XP_016865943.1:n.250+138974C>A
XM_017010455.2:c.250+138974C>A	XP_016865944.1:n.250+138974C>A
XM_017010456.2:c.250+138974C>A	XP_016865945.1:n.250+138974C>A
XM_017010457.2:c.250+138974C>A	XP_016865946.1:n.250+138974C>A
XM_017010459.2:c.250+138974C>A	XP_016865948.1:n.250+138974C>A
XM_017010460.2:c.250+138974C>A	XP_016865949.1:n.250+138974C>A
XM_017010461.2:c.250+138974C>A	XP_016865950.1:n.250+138974C>A
XM_017010462.2:c.250+138974C>A	XP_016865951.1:n.250+138974C>A
NM_001242648.3:c.250+138974C>A	NP_001229577.1:n.250+138974C>A
NM_001322308.2:c.250+138974C>A	NP_001309237.1:n.250+138974C>A
NM_001322309.2:c.250+138974C>A	NP_001309238.1:n.250+138974C>A
NM_001374581.1:c.250+138974C>A	NP_001361510.1:n.250+138974C>A
NM_001374582.1:c.250+138974C>A	NP_001361511.1:n.250+138974C>A
NM_001374584.1:c.251-13901C>A	NP_001361513.1:n.251-13901C>A
NM_030948.5:c.250+138974C>A	NP_112210.1:n.250+138974C>A
NM_001242648.4:c.250+138974C>A	NP_001229577.1:n.250+138974C>A
NM_001322308.3:c.250+138974C>A	NP_001309237.1:n.250+138974C>A
NM_001322309.3:c.250+138974C>A	NP_001309238.1:n.250+138974C>A
NM_001322310.2:c.250+138974C>A	NP_001309239.1:n.250+138974C>A
NM_001374581.2:c.250+138974C>A	NP_001361510.1:n.250+138974C>A
NM_030948.6:c.250+138974C>A MANE Select	NP_112210.1:n.250+138974C>A