Canonical Allele Identifier: CA6746652

Gene: GNPTAB

Linked Data

• ClinVar Variation Id: 739533
• ClinVar RCV Id: RCV000915507 ; RCV001825838
• dbSNP Id: rs781704040
• ExAC: 12:102161906 G / A
• gnomAD v2: 12-102161906-G-A
• gnomAD v3: 12-101768128-G-A
• gnomAD v4: 12-101768128-G-A
• MyVariant Identifiers: chr12:g.102161906G>A (hg19) ; chr12:g.101768128G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101768128G>A , CM000674.2:g.101768128G>A	GRCh38
NC_000012.11:g.102161906G>A , CM000674.1:g.102161906G>A	GRCh37
NC_000012.10:g.100686037G>A	NCBI36
NG_021243.1:g.67740C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.1317C>T MANE Select	ENSP00000299314.7:p.Ala439=
ENST00000299314.11:c.1317C>T	ENSP00000299314.7:p.Ala439=
ENST00000549940.5:c.1317C>T	ENSP00000449150.1:p.Ala439=
NM_024312.4:c.1317C>T	NP_077288.2:p.Ala439=
XM_006719593.2:c.1317C>T	XP_006719656.1:p.Ala439=
XM_011538731.1:c.1236C>T	XP_011537033.1:p.Ala412=
XM_006719593.3:c.1317C>T	XP_006719656.1:p.Ala439=
XM_011538731.2:c.1236C>T	XP_011537033.1:p.Ala412=
XM_017019961.1:c.1101C>T	XP_016875450.1:p.Ala367=
XM_017019962.2:c.90C>T	XP_016875451.1:p.Ala30=
NM_024312.5:c.1317C>T MANE Select	NP_077288.2:p.Ala439=