Canonical Allele Identifier: CA5253315

Gene: AK1

Linked Data

• dbSNP Id: rs562739326
• ExAC: 9:130630562 G / A
• gnomAD v2: 9-130630562-G-A
• gnomAD v3: 9-127868283-G-A
• gnomAD v4: 9-127868283-G-A
• MyVariant Identifiers: chr9:g.130630562G>A (hg19) ; chr9:g.127868283G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868283G>A , CM000671.2:g.127868283G>A	GRCh38
NC_000009.11:g.130630562G>A , CM000671.1:g.130630562G>A	GRCh37
NC_000009.10:g.129670383G>A	NCBI36
NG_011792.1:g.14461C>T
NG_011792.2:g.14461C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000476274.7:n.1016+38C>T
ENST00000643029.1:c.*2191+38C>T	ENSP00000496586.1:n.*2191+38C>T
ENST00000643338.1:c.*2080+38C>T	ENSP00000495890.1:n.*2080+38C>T
ENST00000644144.2:c.516+38C>T MANE Select	ENSP00000494600.1:n.516+38C>T
ENST00000645007.1:c.*2440+38C>T	ENSP00000494773.1:n.*2440+38C>T
ENST00000646171.1:c.*549+38C>T	ENSP00000495484.1:n.*549+38C>T
ENST00000223836.10:c.564+38C>T	ENSP00000223836.10:n.564+38C>T
ENST00000373156.5:c.516+38C>T	ENSP00000362249.1:n.516+38C>T
ENST00000373176.5:c.516+38C>T	ENSP00000362271.1:n.516+38C>T
ENST00000413016.5:c.338+38C>T
ENST00000550143.5:c.296+38C>T	ENSP00000449130.1:n.296+38C>T
NM_000476.2:c.516+38C>T	NP_000467.1:n.516+38C>T
XM_005251786.2:c.564+38C>T	XP_005251843.1:n.564+38C>T
XM_011518348.1:c.516+38C>T	XP_011516650.1:n.516+38C>T
XM_011518349.1:c.336+38C>T	XP_011516651.1:n.336+38C>T
NM_001318121.1:c.516+38C>T	NP_001305050.1:n.516+38C>T
NM_001318122.1:c.564+38C>T	NP_001305051.1:n.564+38C>T
XM_017014428.1:c.516+38C>T	XP_016869917.1:n.516+38C>T
XM_024447439.1:c.495+38C>T	XP_024303207.1:n.495+38C>T
XM_024447440.1:c.336+38C>T	XP_024303208.1:n.336+38C>T
NM_001318122.2:c.564+38C>T	NP_001305051.1:n.564+38C>T
NM_000476.3:c.516+38C>T MANE Select	NP_000467.1:n.516+38C>T
NR_174625.1:n.3835+38C>T
NR_174626.1:n.3678+38C>T
NR_174627.1:n.3715+38C>T
NR_174628.1:n.3093+38C>T
NR_174629.1:n.3038+38C>T
NR_174630.1:n.3074+38C>T
NR_174631.1:n.3019+38C>T
NR_174632.1:n.3108+38C>T