Canonical Allele Identifier: CA386305008

Gene: GNPTAB

Linked Data

• dbSNP Id: rs1594234218
• MyVariant Identifiers: chr12:g.102179903T>G (hg19) ; chr12:g.101786125T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101786125T>G , CM000674.2:g.101786125T>G	GRCh38
NC_000012.11:g.102179903T>G , CM000674.1:g.102179903T>G	GRCh37
NC_000012.10:g.100704034T>G	NCBI36
NG_021243.1:g.49743A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.458A>C MANE Select	ENSP00000299314.7:p.Asp153Ala
ENST00000299314.11:c.458A>C	ENSP00000299314.7:p.Asp153Ala
ENST00000549940.5:c.458A>C	ENSP00000449150.1:p.Asp153Ala
ENST00000550352.1:n.252A>C
ENST00000552681.1:c.92A>C	ENSP00000449217.1:p.Asp31Ala
NM_024312.4:c.458A>C	NP_077288.2:p.Asp153Ala
XM_006719593.2:c.458A>C	XP_006719656.1:p.Asp153Ala
XM_011538731.1:c.377A>C	XP_011537033.1:p.Asp126Ala
XM_006719593.3:c.458A>C	XP_006719656.1:p.Asp153Ala
XM_011538731.2:c.377A>C	XP_011537033.1:p.Asp126Ala
XM_017019961.1:c.242A>C	XP_016875450.1:p.Asp81Ala
XM_017019962.2:c.-893A>C	XP_016875451.1:n.-893A>C
NM_024312.5:c.458A>C MANE Select	NP_077288.2:p.Asp153Ala