Canonical Allele Identifier: CA394186934

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1411917A>C (hg19) ; chr16:g.1361916A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361916A>C , CM000678.2:g.1361916A>C	GRCh38
NC_000016.9:g.1411917A>C , CM000678.1:g.1411917A>C	GRCh37
NC_000016.8:g.1351918A>C	NCBI36
NG_016985.1:g.15018A>C
NG_033129.1:g.57789T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.377A>C
ENST00000529110.2:c.362A>C	ENSP00000435349.2:p.Glu121Ala
ENST00000529957.6:n.336A>C
ENST00000683366.1:c.*10A>C	ENSP00000507283.1:n.*10A>C
ENST00000683887.1:c.326A>C	ENSP00000506886.1:p.Glu109Ala
ENST00000684100.1:n.272A>C
ENST00000684126.1:n.336A>C
ENST00000684688.1:n.903A>C
ENST00000204679.9:c.278A>C MANE Select	ENSP00000204679.4:p.Glu93Ala
ENST00000204679.8:c.278A>C	ENSP00000204679.4:p.Glu93Ala
ENST00000526820.5:c.*180A>C	ENSP00000434413.1:n.*180A>C
ENST00000527076.1:n.1294A>C
ENST00000527168.5:n.314A>C
ENST00000529110.1:c.345A>C
ENST00000529957.5:n.377A>C
NM_032520.4:c.278A>C	NP_115909.1:p.Glu93Ala
XM_017023782.1:c.326A>C	XP_016879271.1:p.Glu109Ala
XM_017023783.1:c.-83A>C	XP_016879272.1:n.-83A>C
NM_032520.5:c.278A>C MANE Select	NP_115909.1:p.Glu93Ala