Canonical Allele Identifier: CA386305111

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102179955C>G (hg19) ; chr12:g.101786177C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101786177C>G , CM000674.2:g.101786177C>G	GRCh38
NC_000012.11:g.102179955C>G , CM000674.1:g.102179955C>G	GRCh37
NC_000012.10:g.100704086C>G	NCBI36
NG_021243.1:g.49691G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.406G>C MANE Select	ENSP00000299314.7:p.Val136Leu
ENST00000299314.11:c.406G>C	ENSP00000299314.7:p.Val136Leu
ENST00000549940.5:c.406G>C	ENSP00000449150.1:p.Val136Leu
ENST00000550352.1:n.200G>C
ENST00000552681.1:c.40G>C	ENSP00000449217.1:p.Val14Leu
NM_024312.4:c.406G>C	NP_077288.2:p.Val136Leu
XM_006719593.2:c.406G>C	XP_006719656.1:p.Val136Leu
XM_011538731.1:c.325G>C	XP_011537033.1:p.Val109Leu
XM_006719593.3:c.406G>C	XP_006719656.1:p.Val136Leu
XM_011538731.2:c.325G>C	XP_011537033.1:p.Val109Leu
XM_017019961.1:c.190G>C	XP_016875450.1:p.Val64Leu
XM_017019962.2:c.-945G>C	XP_016875451.1:n.-945G>C
NM_024312.5:c.406G>C MANE Select	NP_077288.2:p.Val136Leu