Canonical Allele Identifier: CA203276546

Gene: PHYH

Linked Data

• dbSNP Id: rs577877708
• gnomAD v2: 10-13326028-A-G
• gnomAD v3: 10-13284028-A-G
• gnomAD v4: 10-13284028-A-G
• MyVariant Identifiers: chr10:g.13326028A>G (hg19) ; chr10:g.13284028A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13284028A>G , CM000672.2:g.13284028A>G	GRCh38
NC_000010.10:g.13326028A>G , CM000672.1:g.13326028A>G	GRCh37
NC_000010.9:g.13366034A>G	NCBI36
NG_012862.1:g.21103T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263038.9:c.679-189T>C MANE Select	ENSP00000263038.4:n.679-189T>C
ENST00000263038.8:c.679-189T>C	ENSP00000263038.4:n.679-189T>C
ENST00000396913.6:c.379-189T>C	ENSP00000380121.2:n.379-189T>C
ENST00000396920.7:c.628-189T>C	ENSP00000380126.3:n.628-189T>C
ENST00000453759.6:c.379-189T>C	ENSP00000412525.2:n.379-189T>C
NM_001037537.1:c.379-189T>C	NP_001032626.1:n.379-189T>C
NM_006214.3:c.679-189T>C	NP_006205.1:n.679-189T>C
XM_005252469.2:c.460-189T>C	XP_005252526.1:n.460-189T>C
NM_001323080.1:c.379-189T>C	NP_001310009.1:n.379-189T>C
NM_001323082.1:c.685-189T>C	NP_001310011.1:n.685-189T>C
NM_001323083.1:c.415-189T>C	NP_001310012.1:n.415-189T>C
NM_001323084.1:c.385-189T>C	NP_001310013.1:n.385-189T>C
NM_006214.4:c.679-189T>C MANE Select	NP_006205.1:n.679-189T>C
NM_001037537.2:c.379-189T>C	NP_001032626.1:n.379-189T>C
NM_001323080.2:c.379-189T>C	NP_001310009.1:n.379-189T>C
NM_001323082.2:c.685-189T>C	NP_001310011.1:n.685-189T>C
NM_001323083.2:c.415-189T>C	NP_001310012.1:n.415-189T>C
NM_001323084.2:c.385-189T>C	NP_001310013.1:n.385-189T>C