Canonical Allele Identifier: CA242453924

Gene: GNPTAB

Linked Data

• dbSNP Id: rs985051236
• gnomAD v2: 12-102154997-C-T
• gnomAD v3: 12-101761219-C-T
• gnomAD v4: 12-101761219-C-T
• MyVariant Identifiers: chr12:g.102154997C>T (hg19) ; chr12:g.101761219C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101761219C>T , CM000674.2:g.101761219C>T	GRCh38
NC_000012.11:g.102154997C>T , CM000674.1:g.102154997C>T	GRCh37
NC_000012.10:g.100679128C>T	NCBI36
NG_021243.1:g.74649G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.3043G>A MANE Select	ENSP00000299314.7:p.Asp1015Asn
ENST00000299314.11:c.3043G>A	ENSP00000299314.7:p.Asp1015Asn
NM_024312.4:c.3043G>A	NP_077288.2:p.Asp1015Asn
XM_006719593.2:c.3043G>A	XP_006719656.1:p.Asp1015Asn
XM_011538731.1:c.2962G>A	XP_011537033.1:p.Asp988Asn
XM_006719593.3:c.3043G>A	XP_006719656.1:p.Asp1015Asn
XM_011538731.2:c.2962G>A	XP_011537033.1:p.Asp988Asn
XM_017019961.1:c.2827G>A	XP_016875450.1:p.Asp943Asn
XM_017019962.2:c.1816G>A	XP_016875451.1:p.Asp606Asn
NM_024312.5:c.3043G>A MANE Select	NP_077288.2:p.Asp1015Asn