Canonical Allele Identifier: CA6746861

Gene: GNPTAB

Linked Data

• dbSNP Id: rs756660023
• ExAC: 12:102179819 G / A
• gnomAD v2: 12-102179819-G-A
• gnomAD v4: 12-101786041-G-A
• MyVariant Identifiers: chr12:g.102179819G>A (hg19) ; chr12:g.101786041G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101786041G>A , CM000674.2:g.101786041G>A	GRCh38
NC_000012.11:g.102179819G>A , CM000674.1:g.102179819G>A	GRCh37
NC_000012.10:g.100703950G>A	NCBI36
NG_021243.1:g.49827C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.542C>T MANE Select	ENSP00000299314.7:p.Ser181Leu
ENST00000299314.11:c.542C>T	ENSP00000299314.7:p.Ser181Leu
ENST00000549940.5:c.542C>T	ENSP00000449150.1:p.Ser181Leu
ENST00000550352.1:n.336C>T
ENST00000552681.1:c.176C>T	ENSP00000449217.1:p.Ser59Leu
NM_024312.4:c.542C>T	NP_077288.2:p.Ser181Leu
XM_006719593.2:c.542C>T	XP_006719656.1:p.Ser181Leu
XM_011538731.1:c.461C>T	XP_011537033.1:p.Ser154Leu
XM_006719593.3:c.542C>T	XP_006719656.1:p.Ser181Leu
XM_011538731.2:c.461C>T	XP_011537033.1:p.Ser154Leu
XM_017019961.1:c.326C>T	XP_016875450.1:p.Ser109Leu
XM_017019962.2:c.-809C>T	XP_016875451.1:n.-809C>T
NM_024312.5:c.542C>T MANE Select	NP_077288.2:p.Ser181Leu