Canonical Allele Identifier: CA682777566

Gene: GNPTAB

Linked Data

• dbSNP Id: rs1357543197
• gnomAD v3: 12-101753566-T-A
• gnomAD v4: 12-101753566-T-A
• MyVariant Identifiers: chr12:g.102147344T>A (hg19) ; chr12:g.101753566T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101753566T>A , CM000674.2:g.101753566T>A	GRCh38
NC_000012.11:g.102147344T>A , CM000674.1:g.102147344T>A	GRCh37
NC_000012.10:g.100671475T>A	NCBI36
NG_021243.1:g.82302A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3435-27A>T MANE Select	ENSP00000299314.7:n.3435-27A>T
ENST00000299314.11:c.3435-27A>T	ENSP00000299314.7:n.3435-27A>T
ENST00000549738.5:c.333-27A>T	ENSP00000450161.1:n.333-27A>T
NM_024312.4:c.3435-27A>T	NP_077288.2:n.3435-27A>T
XM_011538731.1:c.3354-27A>T	XP_011537033.1:n.3354-27A>T
XM_011538731.2:c.3354-27A>T	XP_011537033.1:n.3354-27A>T
XM_017019961.1:c.3219-27A>T	XP_016875450.1:n.3219-27A>T
XM_017019962.2:c.2208-27A>T	XP_016875451.1:n.2208-27A>T
NM_024312.5:c.3435-27A>T MANE Select	NP_077288.2:n.3435-27A>T