Canonical Allele Identifier: CA242462412

Gene: GNPTAB

Linked Data

• dbSNP Id: rs965324122
• gnomAD v4: 12-101770217-G-T
• MyVariant Identifiers: chr12:g.102163995G>T (hg19) ; chr12:g.101770217G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101770217G>T , CM000674.2:g.101770217G>T	GRCh38
NC_000012.11:g.102163995G>T , CM000674.1:g.102163995G>T	GRCh37
NC_000012.10:g.100688126G>T	NCBI36
NG_021243.1:g.65651C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.1114-26C>A MANE Select	ENSP00000299314.7:n.1114-26C>A
ENST00000299314.11:c.1114-26C>A	ENSP00000299314.7:n.1114-26C>A
ENST00000549940.5:c.1114-26C>A	ENSP00000449150.1:n.1114-26C>A
NM_024312.4:c.1114-26C>A	NP_077288.2:n.1114-26C>A
XM_006719593.2:c.1114-26C>A	XP_006719656.1:n.1114-26C>A
XM_011538731.1:c.1033-26C>A	XP_011537033.1:n.1033-26C>A
XM_006719593.3:c.1114-26C>A	XP_006719656.1:n.1114-26C>A
XM_011538731.2:c.1033-26C>A	XP_011537033.1:n.1033-26C>A
XM_017019961.1:c.898-26C>A	XP_016875450.1:n.898-26C>A
XM_017019962.2:c.-114-26C>A	XP_016875451.1:n.-114-26C>A
NM_024312.5:c.1114-26C>A MANE Select	NP_077288.2:n.1114-26C>A