Canonical Allele Identifier: CA239360

Gene: GNPTAB

Linked Data

• ClinVar Variation Id: 193739
• ClinVar RCV Id: RCV000173897 ; RCV000449633
• dbSNP Id: rs112543062
• MyVariant Identifiers: chr12:g.102163939T>G (hg19) ; chr12:g.101770161T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101770161T>G , CM000674.2:g.101770161T>G	GRCh38
NC_000012.11:g.102163939T>G , CM000674.1:g.102163939T>G	GRCh37
NC_000012.10:g.100688070T>G	NCBI36
NG_021243.1:g.65707A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.1144A>C MANE Select	ENSP00000299314.7:p.Thr382Pro
ENST00000299314.11:c.1144A>C	ENSP00000299314.7:p.Thr382Pro
ENST00000549940.5:c.1144A>C	ENSP00000449150.1:p.Thr382Pro
NM_024312.4:c.1144A>C	NP_077288.2:p.Thr382Pro
XM_006719593.2:c.1144A>C	XP_006719656.1:p.Thr382Pro
XM_011538731.1:c.1063A>C	XP_011537033.1:p.Thr355Pro
XM_006719593.3:c.1144A>C	XP_006719656.1:p.Thr382Pro
XM_011538731.2:c.1063A>C	XP_011537033.1:p.Thr355Pro
XM_017019961.1:c.928A>C	XP_016875450.1:p.Thr310Pro
XM_017019962.2:c.-84A>C	XP_016875451.1:n.-84A>C
NM_024312.5:c.1144A>C MANE Select	NP_077288.2:p.Thr382Pro