Canonical Allele Identifier: CA607597957

Gene: GNPTAB

Linked Data

• dbSNP Id: rs1441825790
• gnomAD v2: 12-102162009-C-A
• gnomAD v3: 12-101768231-C-A
• gnomAD v4: 12-101768231-C-A
• MyVariant Identifiers: chr12:g.102162009C>A (hg19) ; chr12:g.101768231C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101768231C>A , CM000674.2:g.101768231C>A	GRCh38
NC_000012.11:g.102162009C>A , CM000674.1:g.102162009C>A	GRCh37
NC_000012.10:g.100686140C>A	NCBI36
NG_021243.1:g.67637G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.1285-71G>T MANE Select	ENSP00000299314.7:n.1285-71G>T
ENST00000299314.11:c.1285-71G>T	ENSP00000299314.7:n.1285-71G>T
ENST00000549940.5:c.1285-71G>T	ENSP00000449150.1:n.1285-71G>T
NM_024312.4:c.1285-71G>T	NP_077288.2:n.1285-71G>T
XM_006719593.2:c.1285-71G>T	XP_006719656.1:n.1285-71G>T
XM_011538731.1:c.1204-71G>T	XP_011537033.1:n.1204-71G>T
XM_006719593.3:c.1285-71G>T	XP_006719656.1:n.1285-71G>T
XM_011538731.2:c.1204-71G>T	XP_011537033.1:n.1204-71G>T
XM_017019961.1:c.1069-71G>T	XP_016875450.1:n.1069-71G>T
XM_017019962.2:c.58-71G>T	XP_016875451.1:n.58-71G>T
NM_024312.5:c.1285-71G>T MANE Select	NP_077288.2:n.1285-71G>T