Canonical Allele Identifier: CA2630959565

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1362187-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362187A>C , CM000678.2:g.1362187A>C	GRCh38
NC_000016.9:g.1412188A>C , CM000678.1:g.1412188A>C	GRCh37
NC_000016.8:g.1352189A>C	NCBI36
NG_016985.1:g.15289A>C
NG_033129.1:g.57518T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.511-19A>C
ENST00000529110.2:c.496-19A>C	ENSP00000435349.2:n.496-19A>C
ENST00000529957.6:n.470-19A>C
ENST00000683366.1:c.*144-19A>C	ENSP00000507283.1:n.*144-19A>C
ENST00000683887.1:c.460-19A>C	ENSP00000506886.1:n.460-19A>C
ENST00000684100.1:n.406-19A>C
ENST00000684126.1:n.470-19A>C
ENST00000684688.1:n.1037-19A>C
ENST00000204679.9:c.412-19A>C MANE Select	ENSP00000204679.4:n.412-19A>C
ENST00000204679.8:c.412-19A>C	ENSP00000204679.4:n.412-19A>C
ENST00000527076.1:n.1428-19A>C
ENST00000527168.5:n.448-19A>C
ENST00000529110.1:c.479-19A>C
ENST00000529957.5:n.511-19A>C
NM_032520.4:c.412-19A>C	NP_115909.1:n.412-19A>C
XM_017023782.1:c.460-19A>C	XP_016879271.1:n.460-19A>C
XM_017023783.1:c.52-19A>C	XP_016879272.1:n.52-19A>C
NM_032520.5:c.412-19A>C MANE Select	NP_115909.1:n.412-19A>C