Canonical Allele Identifier: CA343397

Gene: GNPTAB

Linked Data

• ClinVar Variation Id: 39071
• ClinVar RCV Id: RCV000032337 ; RCV000983987 ; RCV001044478 ; RCV003137550
• dbSNP Id: rs142065232
• ExAC: 12:102151014 A / T
• gnomAD v2: 12-102151014-A-T
• gnomAD v3: 12-101757236-A-T
• gnomAD v4: 12-101757236-A-T
• MyVariant Identifiers: chr12:g.102151014A>T (hg19) ; chr12:g.101757236A>T (hg38)
• PubMed: PMID:19617216 ; PMID:20301728 ; PMID:25525159

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101757236A>T , CM000674.2:g.101757236A>T	GRCh38
NC_000012.11:g.102151014A>T , CM000674.1:g.102151014A>T	GRCh37
NC_000012.10:g.100675145A>T	NCBI36
NG_021243.1:g.78632T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3410T>A MANE Select	ENSP00000299314.7:p.Leu1137Ter
ENST00000299314.11:c.3410T>A	ENSP00000299314.7:p.Leu1137Ter
ENST00000549194.1:n.276T>A
ENST00000549738.5:c.161T>A	ENSP00000450161.1:p.Leu54Ter
ENST00000550718.1:c.222T>A
NM_024312.4:c.3410T>A	NP_077288.2:p.Leu1137Ter
XM_006719593.2:c.3410T>A	XP_006719656.1:p.Leu1137Ter
XM_011538731.1:c.3329T>A	XP_011537033.1:p.Leu1110Ter
XM_006719593.3:c.3410T>A	XP_006719656.1:p.Leu1137Ter
XM_011538731.2:c.3329T>A	XP_011537033.1:p.Leu1110Ter
XM_017019961.1:c.3194T>A	XP_016875450.1:p.Leu1065Ter
XM_017019962.2:c.2183T>A	XP_016875451.1:p.Leu728Ter
NM_024312.5:c.3410T>A MANE Select	NP_077288.2:p.Leu1137Ter