Canonical Allele Identifier: CA394186953

Gene: GNPTG

Linked Data

• dbSNP Id: rs2034891314
• gnomAD v3: 16-1361920-G-C
• gnomAD v4: 16-1361920-G-C
• MyVariant Identifiers: chr16:g.1411921G>C (hg19) ; chr16:g.1361920G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361920G>C , CM000678.2:g.1361920G>C	GRCh38
NC_000016.9:g.1411921G>C , CM000678.1:g.1411921G>C	GRCh37
NC_000016.8:g.1351922G>C	NCBI36
NG_016985.1:g.15022G>C
NG_033129.1:g.57785C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.381G>C
ENST00000529110.2:c.366G>C	ENSP00000435349.2:p.Gln122His
ENST00000529957.6:n.340G>C
ENST00000683366.1:c.*14G>C	ENSP00000507283.1:n.*14G>C
ENST00000683887.1:c.330G>C	ENSP00000506886.1:p.Gln110His
ENST00000684100.1:n.276G>C
ENST00000684126.1:n.340G>C
ENST00000684688.1:n.907G>C
ENST00000204679.9:c.282G>C MANE Select	ENSP00000204679.4:p.Gln94His
ENST00000204679.8:c.282G>C	ENSP00000204679.4:p.Gln94His
ENST00000526820.5:c.*184G>C	ENSP00000434413.1:n.*184G>C
ENST00000527076.1:n.1298G>C
ENST00000527168.5:n.318G>C
ENST00000529110.1:c.349G>C
ENST00000529957.5:n.381G>C
NM_032520.4:c.282G>C	NP_115909.1:p.Gln94His
XM_017023782.1:c.330G>C	XP_016879271.1:p.Gln110His
XM_017023783.1:c.-79G>C	XP_016879272.1:n.-79G>C
NM_032520.5:c.282G>C MANE Select	NP_115909.1:p.Gln94His