Canonical Allele Identifier: CA242473296

Gene: GNPTAB

Linked Data

• dbSNP Id: rs771918262
• gnomAD v2: 12-102179801-C-G
• gnomAD v3: 12-101786023-C-G
• gnomAD v4: 12-101786023-C-G
• MyVariant Identifiers: chr12:g.102179801C>G (hg19) ; chr12:g.101786023C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101786023C>G , CM000674.2:g.101786023C>G	GRCh38
NC_000012.11:g.102179801C>G , CM000674.1:g.102179801C>G	GRCh37
NC_000012.10:g.100703932C>G	NCBI36
NG_021243.1:g.49845G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.560G>C MANE Select	ENSP00000299314.7:p.Ser187Thr
ENST00000299314.11:c.560G>C	ENSP00000299314.7:p.Ser187Thr
ENST00000549940.5:c.560G>C	ENSP00000449150.1:p.Ser187Thr
ENST00000550352.1:n.354G>C
ENST00000552681.1:c.194G>C	ENSP00000449217.1:p.Ser65Thr
NM_024312.4:c.560G>C	NP_077288.2:p.Ser187Thr
XM_006719593.2:c.560G>C	XP_006719656.1:p.Ser187Thr
XM_011538731.1:c.479G>C	XP_011537033.1:p.Ser160Thr
XM_006719593.3:c.560G>C	XP_006719656.1:p.Ser187Thr
XM_011538731.2:c.479G>C	XP_011537033.1:p.Ser160Thr
XM_017019961.1:c.344G>C	XP_016875450.1:p.Ser115Thr
XM_017019962.2:c.-791G>C	XP_016875451.1:n.-791G>C
NM_024312.5:c.560G>C MANE Select	NP_077288.2:p.Ser187Thr