Canonical Allele Identifier: CA394187942

Gene: GNPTG

Linked Data

• dbSNP Id: rs748444543
• gnomAD v4: 16-1362309-A-C
• MyVariant Identifiers: chr16:g.1412310A>C (hg19) ; chr16:g.1362309A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362309A>C , CM000678.2:g.1362309A>C	GRCh38
NC_000016.9:g.1412310A>C , CM000678.1:g.1412310A>C	GRCh37
NC_000016.8:g.1352311A>C	NCBI36
NG_016985.1:g.15411A>C
NG_033129.1:g.57396T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.614A>C
ENST00000529110.2:c.599A>C	ENSP00000435349.2:p.His200Pro
ENST00000529957.6:n.573A>C
ENST00000683366.1:c.*247A>C	ENSP00000507283.1:n.*247A>C
ENST00000683887.1:c.563A>C	ENSP00000506886.1:p.His188Pro
ENST00000684100.1:n.509A>C
ENST00000684126.1:n.573A>C
ENST00000684688.1:n.1140A>C
ENST00000204679.9:c.515A>C MANE Select	ENSP00000204679.4:p.His172Pro
ENST00000204679.8:c.515A>C	ENSP00000204679.4:p.His172Pro
ENST00000527076.1:n.1531A>C
ENST00000527168.5:n.551A>C
ENST00000529957.5:n.614A>C
NM_032520.4:c.515A>C	NP_115909.1:p.His172Pro
XM_017023782.1:c.563A>C	XP_016879271.1:p.His188Pro
XM_017023783.1:c.155A>C	XP_016879272.1:p.His52Pro
NM_032520.5:c.515A>C MANE Select	NP_115909.1:p.His172Pro