Canonical Allele Identifier: CA115740

Gene: GNPTAB

Linked Data

• ClinVar Variation Id: 2761
• ClinVar RCV Id: RCV000002888 ; RCV000031990 ; RCV001377361 ; RCV001731275 ; RCV001831508
• dbSNP Id: rs281865025
• gnomAD v3: 12-101780152-C-T
• gnomAD v4: 12-101780152-C-T
• MyVariant Identifiers: chr12:g.102173930C>T (hg19) ; chr12:g.101780152C>T (hg38)
• PubMed: PMID:15633164 ; PMID:20301730

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101780152C>T , CM000674.2:g.101780152C>T	GRCh38
NC_000012.11:g.102173930C>T , CM000674.1:g.102173930C>T	GRCh37
NC_000012.10:g.100698061C>T	NCBI36
NG_021243.1:g.55716G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.771G>A MANE Select	ENSP00000299314.7:p.Leu257=
ENST00000299314.11:c.771G>A	ENSP00000299314.7:p.Leu257=
ENST00000549940.5:c.771G>A	ENSP00000449150.1:p.Leu257=
ENST00000552681.1:c.405G>A	ENSP00000449217.1:p.Leu135=
NM_024312.4:c.771G>A	NP_077288.2:p.Leu257=
XM_006719593.2:c.771G>A	XP_006719656.1:p.Leu257=
XM_011538731.1:c.690G>A	XP_011537033.1:p.Leu230=
XM_006719593.3:c.771G>A	XP_006719656.1:p.Leu257=
XM_011538731.2:c.690G>A	XP_011537033.1:p.Leu230=
XM_017019961.1:c.555G>A	XP_016875450.1:p.Leu185=
XM_017019962.2:c.-580G>A	XP_016875451.1:n.-580G>A
NM_024312.5:c.771G>A MANE Select	NP_077288.2:p.Leu257=