Canonical Allele Identifier: CA607598037

Gene: GNPTAB

Linked Data

• ClinVar Variation Id: 1115063
• ClinVar RCV Id: RCV001442946
• dbSNP Id: rs1219474346
• gnomAD v2: 12-102179782-G-T
• gnomAD v4: 12-101786004-G-T
• MyVariant Identifiers: chr12:g.102179782G>T (hg19) ; chr12:g.101786004G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101786004G>T , CM000674.2:g.101786004G>T	GRCh38
NC_000012.11:g.102179782G>T , CM000674.1:g.102179782G>T	GRCh37
NC_000012.10:g.100703913G>T	NCBI36
NG_021243.1:g.49864C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.571+8C>A MANE Select	ENSP00000299314.7:n.571+8C>A
ENST00000299314.11:c.571+8C>A	ENSP00000299314.7:n.571+8C>A
ENST00000549940.5:c.571+8C>A	ENSP00000449150.1:n.571+8C>A
ENST00000550352.1:n.373C>A
ENST00000552681.1:c.205+8C>A	ENSP00000449217.1:n.205+8C>A
NM_024312.4:c.571+8C>A	NP_077288.2:n.571+8C>A
XM_006719593.2:c.571+8C>A	XP_006719656.1:n.571+8C>A
XM_011538731.1:c.490+8C>A	XP_011537033.1:n.490+8C>A
XM_006719593.3:c.571+8C>A	XP_006719656.1:n.571+8C>A
XM_011538731.2:c.490+8C>A	XP_011537033.1:n.490+8C>A
XM_017019961.1:c.355+8C>A	XP_016875450.1:n.355+8C>A
XM_017019962.2:c.-780+8C>A	XP_016875451.1:n.-780+8C>A
NM_024312.5:c.571+8C>A MANE Select	NP_077288.2:n.571+8C>A