Canonical Allele Identifier: CA386296338

Gene: GNPTAB

Linked Data

• dbSNP Id: rs1459340538
• gnomAD v2: 12-102155460-C-T
• gnomAD v3: 12-101761682-C-T
• gnomAD v4: 12-101761682-C-T
• MyVariant Identifiers: chr12:g.102155460C>T (hg19) ; chr12:g.101761682C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101761682C>T , CM000674.2:g.101761682C>T	GRCh38
NC_000012.11:g.102155460C>T , CM000674.1:g.102155460C>T	GRCh37
NC_000012.10:g.100679591C>T	NCBI36
NG_021243.1:g.74186G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2797G>A MANE Select	ENSP00000299314.7:p.Asp933Asn
ENST00000299314.11:c.2797G>A	ENSP00000299314.7:p.Asp933Asn
NM_024312.4:c.2797G>A	NP_077288.2:p.Asp933Asn
XM_006719593.2:c.2797G>A	XP_006719656.1:p.Asp933Asn
XM_011538731.1:c.2716G>A	XP_011537033.1:p.Asp906Asn
XM_006719593.3:c.2797G>A	XP_006719656.1:p.Asp933Asn
XM_011538731.2:c.2716G>A	XP_011537033.1:p.Asp906Asn
XM_017019961.1:c.2581G>A	XP_016875450.1:p.Asp861Asn
XM_017019962.2:c.1570G>A	XP_016875451.1:p.Asp524Asn
NM_024312.5:c.2797G>A MANE Select	NP_077288.2:p.Asp933Asn