Canonical Allele Identifier: CA394187009

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1411940T>C (hg19) ; chr16:g.1361939T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361939T>C , CM000678.2:g.1361939T>C	GRCh38
NC_000016.9:g.1411940T>C , CM000678.1:g.1411940T>C	GRCh37
NC_000016.8:g.1351941T>C	NCBI36
NG_016985.1:g.15041T>C
NG_033129.1:g.57766A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.400T>C
ENST00000529110.2:c.385T>C	ENSP00000435349.2:p.Tyr129His
ENST00000529957.6:n.359T>C
ENST00000683366.1:c.*33T>C	ENSP00000507283.1:n.*33T>C
ENST00000683887.1:c.349T>C	ENSP00000506886.1:p.Tyr117His
ENST00000684100.1:n.295T>C
ENST00000684126.1:n.359T>C
ENST00000684688.1:n.926T>C
ENST00000204679.9:c.301T>C MANE Select	ENSP00000204679.4:p.Tyr101His
ENST00000204679.8:c.301T>C	ENSP00000204679.4:p.Tyr101His
ENST00000526820.5:c.*203T>C	ENSP00000434413.1:n.*203T>C
ENST00000527076.1:n.1317T>C
ENST00000527168.5:n.337T>C
ENST00000529110.1:c.368T>C
ENST00000529957.5:n.400T>C
NM_032520.4:c.301T>C	NP_115909.1:p.Tyr101His
XM_017023782.1:c.349T>C	XP_016879271.1:p.Tyr117His
XM_017023783.1:c.-60T>C	XP_016879272.1:n.-60T>C
NM_032520.5:c.301T>C MANE Select	NP_115909.1:p.Tyr101His