Canonical Allele Identifier: CA394187242

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412067A>C (hg19) ; chr16:g.1362066A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362066A>C , CM000678.2:g.1362066A>C	GRCh38
NC_000016.9:g.1412067A>C , CM000678.1:g.1412067A>C	GRCh37
NC_000016.8:g.1352068A>C	NCBI36
NG_016985.1:g.15168A>C
NG_033129.1:g.57639T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.445A>C
ENST00000529110.2:c.430A>C	ENSP00000435349.2:p.Asn144His
ENST00000529957.6:n.404A>C
ENST00000683366.1:c.*78A>C	ENSP00000507283.1:n.*78A>C
ENST00000683887.1:c.394A>C	ENSP00000506886.1:p.Asn132His
ENST00000684100.1:n.340A>C
ENST00000684126.1:n.404A>C
ENST00000684688.1:n.971A>C
ENST00000204679.9:c.346A>C MANE Select	ENSP00000204679.4:p.Asn116His
ENST00000204679.8:c.346A>C	ENSP00000204679.4:p.Asn116His
ENST00000526820.5:c.*248A>C	ENSP00000434413.1:n.*248A>C
ENST00000527076.1:n.1362A>C
ENST00000527168.5:n.382A>C
ENST00000529110.1:c.413A>C
ENST00000529957.5:n.445A>C
NM_032520.4:c.346A>C	NP_115909.1:p.Asn116His
XM_017023782.1:c.394A>C	XP_016879271.1:p.Asn132His
XM_017023783.1:c.-15A>C	XP_016879272.1:n.-15A>C
NM_032520.5:c.346A>C MANE Select	NP_115909.1:p.Asn116His