Canonical Allele Identifier: CA951174630

Gene: GNPTAB

Linked Data

• dbSNP Id: rs1952993931
• gnomAD v3: 12-101761486-T-A
• gnomAD v4: 12-101761486-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101761486T>A , CM000674.2:g.101761486T>A	GRCh38
NC_000012.11:g.102155264T>A , CM000674.1:g.102155264T>A	GRCh37
NC_000012.10:g.100679395T>A	NCBI36
NG_021243.1:g.74382A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2915+78A>T MANE Select	ENSP00000299314.7:n.2915+78A>T
ENST00000299314.11:c.2915+78A>T	ENSP00000299314.7:n.2915+78A>T
NM_024312.4:c.2915+78A>T	NP_077288.2:n.2915+78A>T
XM_006719593.2:c.2915+78A>T	XP_006719656.1:n.2915+78A>T
XM_011538731.1:c.2834+78A>T	XP_011537033.1:n.2834+78A>T
XM_006719593.3:c.2915+78A>T	XP_006719656.1:n.2915+78A>T
XM_011538731.2:c.2834+78A>T	XP_011537033.1:n.2834+78A>T
XM_017019961.1:c.2699+78A>T	XP_016875450.1:n.2699+78A>T
XM_017019962.2:c.1688+78A>T	XP_016875451.1:n.1688+78A>T
NM_024312.5:c.2915+78A>T MANE Select	NP_077288.2:n.2915+78A>T