Canonical Allele Identifier: CA166771973

Gene: AHCYL2

Linked Data

• dbSNP Id: rs939525550
• gnomAD v2: 7-129004758-T-A
• gnomAD v3: 7-129364917-T-A
• gnomAD v4: 7-129364917-T-A
• MyVariant Identifiers: chr7:g.129004758T>A (hg19) ; chr7:g.129364917T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.129364917T>A , CM000669.2:g.129364917T>A	GRCh38
NC_000007.13:g.129004758T>A , CM000669.1:g.129004758T>A	GRCh37
NC_000007.12:g.128791994T>A	NCBI36
NG_029180.1:g.144904T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000325006.8:c.364-14721T>A MANE Select	ENSP00000315931.3:n.364-14721T>A
ENST00000325006.7:c.364-14721T>A	ENSP00000315931.3:n.364-14721T>A
ENST00000446544.6:c.364-14724T>A	ENSP00000413639.2:n.364-14724T>A
ENST00000461161.5:n.159+13256T>A
NM_001130720.2:c.364-14724T>A	NP_001124192.1:n.364-14724T>A
NM_015328.3:c.364-14721T>A	NP_056143.1:n.364-14721T>A
XR_927961.1:n.86-1444A>T
XM_017011904.1:c.-255-14724T>A	XP_016867393.1:n.-255-14724T>A
XM_017011906.1:c.-258-14721T>A	XP_016867395.1:n.-258-14721T>A
NM_001130720.3:c.364-14724T>A	NP_001124192.1:n.364-14724T>A
NM_015328.4:c.364-14721T>A MANE Select	NP_056143.1:n.364-14721T>A
NM_001393387.1:c.364-14721T>A	NP_001380316.1:n.364-14721T>A
NR_171671.1:n.411-12625T>A