Canonical Allele Identifier: CA386302887

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102163966C>G (hg19) ; chr12:g.101770188C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101770188C>G , CM000674.2:g.101770188C>G	GRCh38
NC_000012.11:g.102163966C>G , CM000674.1:g.102163966C>G	GRCh37
NC_000012.10:g.100688097C>G	NCBI36
NG_021243.1:g.65680G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.1117G>C MANE Select	ENSP00000299314.7:p.Val373Leu
ENST00000299314.11:c.1117G>C	ENSP00000299314.7:p.Val373Leu
ENST00000549940.5:c.1117G>C	ENSP00000449150.1:p.Val373Leu
NM_024312.4:c.1117G>C	NP_077288.2:p.Val373Leu
XM_006719593.2:c.1117G>C	XP_006719656.1:p.Val373Leu
XM_011538731.1:c.1036G>C	XP_011537033.1:p.Val346Leu
XM_006719593.3:c.1117G>C	XP_006719656.1:p.Val373Leu
XM_011538731.2:c.1036G>C	XP_011537033.1:p.Val346Leu
XM_017019961.1:c.901G>C	XP_016875450.1:p.Val301Leu
XM_017019962.2:c.-111G>C	XP_016875451.1:n.-111G>C
NM_024312.5:c.1117G>C MANE Select	NP_077288.2:p.Val373Leu