Canonical Allele Identifier: CA493026459

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1361920-G-A
• MyVariant Identifiers: chr16:g.1411921G>A (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.381G>A
ENST00000529110.2:c.366G>A	ENSP00000435349.2:p.Gln122=
ENST00000529957.6:n.340G>A
ENST00000683366.1:c.*14G>A	ENSP00000507283.1:n.*14G>A
ENST00000683887.1:c.330G>A	ENSP00000506886.1:p.Gln110=
ENST00000684100.1:n.276G>A
ENST00000684126.1:n.340G>A
ENST00000684688.1:n.907G>A
ENST00000204679.9:c.282G>A MANE Select	ENSP00000204679.4:p.Gln94=
ENST00000204679.8:c.282G>A	ENSP00000204679.4:p.Gln94=
ENST00000526820.5:c.*184G>A	ENSP00000434413.1:n.*184G>A
ENST00000527076.1:n.1298G>A
ENST00000527168.5:n.318G>A
ENST00000529110.1:c.349G>A
ENST00000529957.5:n.381G>A
NM_032520.4:c.282G>A	NP_115909.1:p.Gln94=
XM_017023782.1:c.330G>A	XP_016879271.1:p.Gln110=
XM_017023783.1:c.-79G>A	XP_016879272.1:n.-79G>A
NM_032520.5:c.282G>A MANE Select	NP_115909.1:p.Gln94=