Canonical Allele Identifier: CA7807864

Gene: GNPTG

Linked Data

• dbSNP Id: rs761527949
• ExAC: 16:1412645 G / C
• gnomAD v2: 16-1412645-G-C
• gnomAD v4: 16-1362644-G-C
• MyVariant Identifiers: chr16:g.1412645G>C (hg19) ; chr16:g.1362644G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362644G>C , CM000678.2:g.1362644G>C	GRCh38
NC_000016.9:g.1412645G>C , CM000678.1:g.1412645G>C	GRCh37
NC_000016.8:g.1352646G>C	NCBI36
NG_016985.1:g.15746G>C
NG_033129.1:g.57061C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.742G>C
ENST00000529110.2:c.727G>C	ENSP00000435349.2:p.Asp243His
ENST00000529957.6:n.701G>C
ENST00000683366.1:c.*375G>C	ENSP00000507283.1:n.*375G>C
ENST00000683887.1:c.691G>C	ENSP00000506886.1:p.Asp231His
ENST00000684100.1:n.637G>C
ENST00000684126.1:n.777G>C
ENST00000684688.1:n.1268G>C
ENST00000204679.9:c.643G>C MANE Select	ENSP00000204679.4:p.Asp215His
ENST00000204679.8:c.643G>C	ENSP00000204679.4:p.Asp215His
ENST00000527076.1:n.1866G>C
ENST00000527168.5:n.810G>C
ENST00000529957.5:n.742G>C
NM_032520.4:c.643G>C	NP_115909.1:p.Asp215His
XM_017023782.1:c.691G>C	XP_016879271.1:p.Asp231His
XM_017023783.1:c.283G>C	XP_016879272.1:p.Asp95His
NM_032520.5:c.643G>C MANE Select	NP_115909.1:p.Asp215His