Canonical Allele Identifier: CA2805551971

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362179A>C , CM000678.2:g.1362179A>C	GRCh38
NC_000016.9:g.1412180A>C , CM000678.1:g.1412180A>C	GRCh37
NC_000016.8:g.1352181A>C	NCBI36
NG_016985.1:g.15281A>C
NG_033129.1:g.57526T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.511-27A>C
ENST00000529110.2:c.496-27A>C	ENSP00000435349.2:n.496-27A>C
ENST00000529957.6:n.470-27A>C
ENST00000683366.1:c.*144-27A>C	ENSP00000507283.1:n.*144-27A>C
ENST00000683887.1:c.460-27A>C	ENSP00000506886.1:n.460-27A>C
ENST00000684100.1:n.406-27A>C
ENST00000684126.1:n.470-27A>C
ENST00000684688.1:n.1037-27A>C
ENST00000204679.9:c.412-27A>C MANE Select	ENSP00000204679.4:n.412-27A>C
ENST00000204679.8:c.412-27A>C	ENSP00000204679.4:n.412-27A>C
ENST00000527076.1:n.1428-27A>C
ENST00000527168.5:n.448-27A>C
ENST00000529110.1:c.479-27A>C
ENST00000529957.5:n.511-27A>C
NM_032520.4:c.412-27A>C	NP_115909.1:n.412-27A>C
XM_017023782.1:c.460-27A>C	XP_016879271.1:n.460-27A>C
XM_017023783.1:c.52-27A>C	XP_016879272.1:n.52-27A>C
NM_032520.5:c.412-27A>C MANE Select	NP_115909.1:n.412-27A>C