Canonical Allele Identifier: CA2575866910

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362408G>C , CM000678.2:g.1362408G>C	GRCh38
NC_000016.9:g.1412409G>C , CM000678.1:g.1412409G>C	GRCh37
NC_000016.8:g.1352410G>C	NCBI36
NG_016985.1:g.15510G>C
NG_033129.1:g.57297C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.626-44G>C
ENST00000529110.2:c.611-44G>C	ENSP00000435349.2:n.611-44G>C
ENST00000529957.6:n.585-44G>C
ENST00000683366.1:c.*259-44G>C	ENSP00000507283.1:n.*259-44G>C
ENST00000683887.1:c.575-44G>C	ENSP00000506886.1:n.575-44G>C
ENST00000684100.1:n.521-44G>C
ENST00000684126.1:n.585-44G>C
ENST00000684688.1:n.1152-44G>C
ENST00000204679.9:c.527-44G>C MANE Select	ENSP00000204679.4:n.527-44G>C
ENST00000204679.8:c.527-44G>C	ENSP00000204679.4:n.527-44G>C
ENST00000527076.1:n.1630G>C
ENST00000527168.5:n.650G>C
ENST00000529957.5:n.626-44G>C
NM_032520.4:c.527-44G>C	NP_115909.1:n.527-44G>C
XM_017023782.1:c.575-44G>C	XP_016879271.1:n.575-44G>C
XM_017023783.1:c.167-44G>C	XP_016879272.1:n.167-44G>C
NM_032520.5:c.527-44G>C MANE Select	NP_115909.1:n.527-44G>C