Canonical Allele Identifier: CA394187194

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412048C>A (hg19) ; chr16:g.1362047C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362047C>A , CM000678.2:g.1362047C>A	GRCh38
NC_000016.9:g.1412048C>A , CM000678.1:g.1412048C>A	GRCh37
NC_000016.8:g.1352049C>A	NCBI36
NG_016985.1:g.15149C>A
NG_033129.1:g.57658G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.426C>A
ENST00000529110.2:c.411C>A	ENSP00000435349.2:p.His137Gln
ENST00000529957.6:n.385C>A
ENST00000683366.1:c.*59C>A	ENSP00000507283.1:n.*59C>A
ENST00000683887.1:c.375C>A	ENSP00000506886.1:p.His125Gln
ENST00000684100.1:n.321C>A
ENST00000684126.1:n.385C>A
ENST00000684688.1:n.952C>A
ENST00000204679.9:c.327C>A MANE Select	ENSP00000204679.4:p.His109Gln
ENST00000204679.8:c.327C>A	ENSP00000204679.4:p.His109Gln
ENST00000526820.5:c.*229C>A	ENSP00000434413.1:n.*229C>A
ENST00000527076.1:n.1343C>A
ENST00000527168.5:n.363C>A
ENST00000529110.1:c.394C>A
ENST00000529957.5:n.426C>A
NM_032520.4:c.327C>A	NP_115909.1:p.His109Gln
XM_017023782.1:c.375C>A	XP_016879271.1:p.His125Gln
XM_017023783.1:c.-34C>A	XP_016879272.1:n.-34C>A
NM_032520.5:c.327C>A MANE Select	NP_115909.1:p.His109Gln