Canonical Allele Identifier: CA481320604

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102161936A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101768158A>G , CM000674.2:g.101768158A>G	GRCh38
NC_000012.11:g.102161936A>G , CM000674.1:g.102161936A>G	GRCh37
NC_000012.10:g.100686067A>G	NCBI36
NG_021243.1:g.67710T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.1287T>C MANE Select	ENSP00000299314.7:p.Val429=
ENST00000299314.11:c.1287T>C	ENSP00000299314.7:p.Val429=
ENST00000549940.5:c.1287T>C	ENSP00000449150.1:p.Val429=
NM_024312.4:c.1287T>C	NP_077288.2:p.Val429=
XM_006719593.2:c.1287T>C	XP_006719656.1:p.Val429=
XM_011538731.1:c.1206T>C	XP_011537033.1:p.Val402=
XM_006719593.3:c.1287T>C	XP_006719656.1:p.Val429=
XM_011538731.2:c.1206T>C	XP_011537033.1:p.Val402=
XM_017019961.1:c.1071T>C	XP_016875450.1:p.Val357=
XM_017019962.2:c.60T>C	XP_016875451.1:p.Val20=
NM_024312.5:c.1287T>C MANE Select	NP_077288.2:p.Val429=