Canonical Allele Identifier: CA386296276

Gene: GNPTAB

Linked Data

• gnomAD v4: 12-101761655-G-T
• COSMIC: COSM199653
• MyVariant Identifiers: chr12:g.102155433G>T (hg19) ; chr12:g.101761655G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101761655G>T , CM000674.2:g.101761655G>T	GRCh38
NC_000012.11:g.102155433G>T , CM000674.1:g.102155433G>T	GRCh37
NC_000012.10:g.100679564G>T	NCBI36
NG_021243.1:g.74213C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2824C>A MANE Select	ENSP00000299314.7:p.Leu942Ile
ENST00000299314.11:c.2824C>A	ENSP00000299314.7:p.Leu942Ile
NM_024312.4:c.2824C>A	NP_077288.2:p.Leu942Ile
XM_006719593.2:c.2824C>A	XP_006719656.1:p.Leu942Ile
XM_011538731.1:c.2743C>A	XP_011537033.1:p.Leu915Ile
XM_006719593.3:c.2824C>A	XP_006719656.1:p.Leu942Ile
XM_011538731.2:c.2743C>A	XP_011537033.1:p.Leu915Ile
XM_017019961.1:c.2608C>A	XP_016875450.1:p.Leu870Ile
XM_017019962.2:c.1597C>A	XP_016875451.1:p.Leu533Ile
NM_024312.5:c.2824C>A MANE Select	NP_077288.2:p.Leu942Ile