Canonical Allele Identifier: CA2575866786

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361850C>G , CM000678.2:g.1361850C>G	GRCh38
NC_000016.9:g.1411851C>G , CM000678.1:g.1411851C>G	GRCh37
NC_000016.8:g.1351852C>G	NCBI36
NG_016985.1:g.14952C>G
NG_033129.1:g.57855G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.333-22C>G
ENST00000529110.2:c.318-22C>G	ENSP00000435349.2:n.318-22C>G
ENST00000529957.6:n.292-22C>G
ENST00000683366.1:c.179-22C>G	ENSP00000507283.1:n.179-22C>G
ENST00000683887.1:c.282-22C>G	ENSP00000506886.1:n.282-22C>G
ENST00000684100.1:n.206C>G
ENST00000684126.1:n.292-22C>G
ENST00000684688.1:n.859-22C>G
ENST00000204679.9:c.234-22C>G MANE Select	ENSP00000204679.4:n.234-22C>G
ENST00000204679.8:c.234-22C>G	ENSP00000204679.4:n.234-22C>G
ENST00000526820.5:c.*136-22C>G	ENSP00000434413.1:n.*136-22C>G
ENST00000527076.1:n.1228C>G
ENST00000527168.5:n.270-22C>G
ENST00000529110.1:c.301-22C>G
ENST00000529957.5:n.333-22C>G
NM_032520.4:c.234-22C>G	NP_115909.1:n.234-22C>G
XM_017023782.1:c.282-22C>G	XP_016879271.1:n.282-22C>G
XM_017023783.1:c.-127-22C>G	XP_016879272.1:n.-127-22C>G
NM_032520.5:c.234-22C>G MANE Select	NP_115909.1:n.234-22C>G