Canonical Allele Identifier: CA386304835

Gene: GNPTAB

Linked Data

• dbSNP Id: rs1478450739
• gnomAD v2: 12-102179820-A-T
• gnomAD v4: 12-101786042-A-T
• MyVariant Identifiers: chr12:g.102179820A>T (hg19) ; chr12:g.101786042A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101786042A>T , CM000674.2:g.101786042A>T	GRCh38
NC_000012.11:g.102179820A>T , CM000674.1:g.102179820A>T	GRCh37
NC_000012.10:g.100703951A>T	NCBI36
NG_021243.1:g.49826T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.541T>A MANE Select	ENSP00000299314.7:p.Ser181Thr
ENST00000299314.11:c.541T>A	ENSP00000299314.7:p.Ser181Thr
ENST00000549940.5:c.541T>A	ENSP00000449150.1:p.Ser181Thr
ENST00000550352.1:n.335T>A
ENST00000552681.1:c.175T>A	ENSP00000449217.1:p.Ser59Thr
NM_024312.4:c.541T>A	NP_077288.2:p.Ser181Thr
XM_006719593.2:c.541T>A	XP_006719656.1:p.Ser181Thr
XM_011538731.1:c.460T>A	XP_011537033.1:p.Ser154Thr
XM_006719593.3:c.541T>A	XP_006719656.1:p.Ser181Thr
XM_011538731.2:c.460T>A	XP_011537033.1:p.Ser154Thr
XM_017019961.1:c.325T>A	XP_016875450.1:p.Ser109Thr
XM_017019962.2:c.-810T>A	XP_016875451.1:n.-810T>A
NM_024312.5:c.541T>A MANE Select	NP_077288.2:p.Ser181Thr