Canonical Allele Identifier: CA394188392

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412619A>C (hg19) ; chr16:g.1362618A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362618A>C , CM000678.2:g.1362618A>C	GRCh38
NC_000016.9:g.1412619A>C , CM000678.1:g.1412619A>C	GRCh37
NC_000016.8:g.1352620A>C	NCBI36
NG_016985.1:g.15720A>C
NG_033129.1:g.57087T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.716A>C
ENST00000529110.2:c.701A>C	ENSP00000435349.2:p.Glu234Ala
ENST00000529957.6:n.675A>C
ENST00000683366.1:c.*349A>C	ENSP00000507283.1:n.*349A>C
ENST00000683887.1:c.665A>C	ENSP00000506886.1:p.Glu222Ala
ENST00000684100.1:n.611A>C
ENST00000684126.1:n.751A>C
ENST00000684688.1:n.1242A>C
ENST00000204679.9:c.617A>C MANE Select	ENSP00000204679.4:p.Glu206Ala
ENST00000204679.8:c.617A>C	ENSP00000204679.4:p.Glu206Ala
ENST00000527076.1:n.1840A>C
ENST00000527168.5:n.784A>C
ENST00000529957.5:n.716A>C
NM_032520.4:c.617A>C	NP_115909.1:p.Glu206Ala
XM_017023782.1:c.665A>C	XP_016879271.1:p.Glu222Ala
XM_017023783.1:c.257A>C	XP_016879272.1:p.Glu86Ala
NM_032520.5:c.617A>C MANE Select	NP_115909.1:p.Glu206Ala