Canonical Allele Identifier: CA386292428

Gene: GNPTAB

Linked Data

• dbSNP Id: rs772131427
• gnomAD v3: 12-101753449-C-T
• gnomAD v4: 12-101753449-C-T
• MyVariant Identifiers: chr12:g.102147227C>T (hg19) ; chr12:g.101753449C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101753449C>T , CM000674.2:g.101753449C>T	GRCh38
NC_000012.11:g.102147227C>T , CM000674.1:g.102147227C>T	GRCh37
NC_000012.10:g.100671358C>T	NCBI36
NG_021243.1:g.82419G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3525G>A MANE Select	ENSP00000299314.7:p.Met1175Ile
ENST00000299314.11:c.3525G>A	ENSP00000299314.7:p.Met1175Ile
ENST00000549738.5:c.423G>A	ENSP00000450161.1:n.423G>A
NM_024312.4:c.3525G>A	NP_077288.2:p.Met1175Ile
XM_011538731.1:c.3444G>A	XP_011537033.1:p.Met1148Ile
XM_011538731.2:c.3444G>A	XP_011537033.1:p.Met1148Ile
XM_017019961.1:c.3309G>A	XP_016875450.1:p.Met1103Ile
XM_017019962.2:c.2298G>A	XP_016875451.1:p.Met766Ile
NM_024312.5:c.3525G>A MANE Select	NP_077288.2:p.Met1175Ile