Canonical Allele Identifier: CA481326203

Gene: GNPTAB

Linked Data

• dbSNP Id: rs1176870866
• gnomAD v2: 12-102179824-A-G
• gnomAD v4: 12-101786046-A-G
• MyVariant Identifiers: chr12:g.102179824A>G (hg19) ; chr12:g.101786046A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101786046A>G , CM000674.2:g.101786046A>G	GRCh38
NC_000012.11:g.102179824A>G , CM000674.1:g.102179824A>G	GRCh37
NC_000012.10:g.100703955A>G	NCBI36
NG_021243.1:g.49822T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.537T>C MANE Select	ENSP00000299314.7:p.Asn179=
ENST00000299314.11:c.537T>C	ENSP00000299314.7:p.Asn179=
ENST00000549940.5:c.537T>C	ENSP00000449150.1:p.Asn179=
ENST00000550352.1:n.331T>C
ENST00000552681.1:c.171T>C	ENSP00000449217.1:p.Asn57=
NM_024312.4:c.537T>C	NP_077288.2:p.Asn179=
XM_006719593.2:c.537T>C	XP_006719656.1:p.Asn179=
XM_011538731.1:c.456T>C	XP_011537033.1:p.Asn152=
XM_006719593.3:c.537T>C	XP_006719656.1:p.Asn179=
XM_011538731.2:c.456T>C	XP_011537033.1:p.Asn152=
XM_017019961.1:c.321T>C	XP_016875450.1:p.Asn107=
XM_017019962.2:c.-814T>C	XP_016875451.1:n.-814T>C
NM_024312.5:c.537T>C MANE Select	NP_077288.2:p.Asn179=