Canonical Allele Identifier: CA386302111

Gene: GNPTAB

Linked Data

• gnomAD v4: 12-101768152-C-G
• MyVariant Identifiers: chr12:g.102161930C>G (hg19) ; chr12:g.101768152C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101768152C>G , CM000674.2:g.101768152C>G	GRCh38
NC_000012.11:g.102161930C>G , CM000674.1:g.102161930C>G	GRCh37
NC_000012.10:g.100686061C>G	NCBI36
NG_021243.1:g.67716G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.1293G>C MANE Select	ENSP00000299314.7:p.Leu431Phe
ENST00000299314.11:c.1293G>C	ENSP00000299314.7:p.Leu431Phe
ENST00000549940.5:c.1293G>C	ENSP00000449150.1:p.Leu431Phe
NM_024312.4:c.1293G>C	NP_077288.2:p.Leu431Phe
XM_006719593.2:c.1293G>C	XP_006719656.1:p.Leu431Phe
XM_011538731.1:c.1212G>C	XP_011537033.1:p.Leu404Phe
XM_006719593.3:c.1293G>C	XP_006719656.1:p.Leu431Phe
XM_011538731.2:c.1212G>C	XP_011537033.1:p.Leu404Phe
XM_017019961.1:c.1077G>C	XP_016875450.1:p.Leu359Phe
XM_017019962.2:c.66G>C	XP_016875451.1:p.Leu22Phe
NM_024312.5:c.1293G>C MANE Select	NP_077288.2:p.Leu431Phe