Canonical Allele Identifier: CA607598030

Gene: GNPTAB

Linked Data

• dbSNP Id: rs998038092
• gnomAD v2: 12-102179628-G-T
• gnomAD v3: 12-101785850-G-T
• gnomAD v4: 12-101785850-G-T
• MyVariant Identifiers: chr12:g.102179628G>T (hg19) ; chr12:g.101785850G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101785850G>T , CM000674.2:g.101785850G>T	GRCh38
NC_000012.11:g.102179628G>T , CM000674.1:g.102179628G>T	GRCh37
NC_000012.10:g.100703759G>T	NCBI36
NG_021243.1:g.50018C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.571+162C>A MANE Select	ENSP00000299314.7:n.571+162C>A
ENST00000299314.11:c.571+162C>A	ENSP00000299314.7:n.571+162C>A
ENST00000549940.5:c.571+162C>A	ENSP00000449150.1:n.571+162C>A
ENST00000550352.1:n.527C>A
ENST00000552681.1:c.205+162C>A	ENSP00000449217.1:n.205+162C>A
NM_024312.4:c.571+162C>A	NP_077288.2:n.571+162C>A
XM_006719593.2:c.571+162C>A	XP_006719656.1:n.571+162C>A
XM_011538731.1:c.490+162C>A	XP_011537033.1:n.490+162C>A
XM_006719593.3:c.571+162C>A	XP_006719656.1:n.571+162C>A
XM_011538731.2:c.490+162C>A	XP_011537033.1:n.490+162C>A
XM_017019961.1:c.355+162C>A	XP_016875450.1:n.355+162C>A
XM_017019962.2:c.-780+162C>A	XP_016875451.1:n.-780+162C>A
NM_024312.5:c.571+162C>A MANE Select	NP_077288.2:n.571+162C>A