Canonical Allele Identifier: CA481326234

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102179848T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101786070T>G , CM000674.2:g.101786070T>G	GRCh38
NC_000012.11:g.102179848T>G , CM000674.1:g.102179848T>G	GRCh37
NC_000012.10:g.100703979T>G	NCBI36
NG_021243.1:g.49798A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.513A>C MANE Select	ENSP00000299314.7:p.Ala171=
ENST00000299314.11:c.513A>C	ENSP00000299314.7:p.Ala171=
ENST00000549940.5:c.513A>C	ENSP00000449150.1:p.Ala171=
ENST00000550352.1:n.307A>C
ENST00000552681.1:c.147A>C	ENSP00000449217.1:p.Ala49=
NM_024312.4:c.513A>C	NP_077288.2:p.Ala171=
XM_006719593.2:c.513A>C	XP_006719656.1:p.Ala171=
XM_011538731.1:c.432A>C	XP_011537033.1:p.Ala144=
XM_006719593.3:c.513A>C	XP_006719656.1:p.Ala171=
XM_011538731.2:c.432A>C	XP_011537033.1:p.Ala144=
XM_017019961.1:c.297A>C	XP_016875450.1:p.Ala99=
XM_017019962.2:c.-838A>C	XP_016875451.1:n.-838A>C
NM_024312.5:c.513A>C MANE Select	NP_077288.2:p.Ala171=