Canonical Allele Identifier: CA6746335

Gene: GNPTAB

Linked Data

• ClinVar Variation Id: 763170
• ClinVar RCV Id: RCV000941387 ; RCV001276847
• dbSNP Id: rs780618202
• ExAC: 12:102155395 A / G
• gnomAD v2: 12-102155395-A-G
• gnomAD v3: 12-101761617-A-G
• gnomAD v4: 12-101761617-A-G
• MyVariant Identifiers: chr12:g.102155395A>G (hg19) ; chr12:g.101761617A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101761617A>G , CM000674.2:g.101761617A>G	GRCh38
NC_000012.11:g.102155395A>G , CM000674.1:g.102155395A>G	GRCh37
NC_000012.10:g.100679526A>G	NCBI36
NG_021243.1:g.74251T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.2862T>C MANE Select	ENSP00000299314.7:p.Pro954=
ENST00000299314.11:c.2862T>C	ENSP00000299314.7:p.Pro954=
NM_024312.4:c.2862T>C	NP_077288.2:p.Pro954=
XM_006719593.2:c.2862T>C	XP_006719656.1:p.Pro954=
XM_011538731.1:c.2781T>C	XP_011537033.1:p.Pro927=
XM_006719593.3:c.2862T>C	XP_006719656.1:p.Pro954=
XM_011538731.2:c.2781T>C	XP_011537033.1:p.Pro927=
XM_017019961.1:c.2646T>C	XP_016875450.1:p.Pro882=
XM_017019962.2:c.1635T>C	XP_016875451.1:p.Pro545=
NM_024312.5:c.2862T>C MANE Select	NP_077288.2:p.Pro954=