Canonical Allele Identifier: CA394186974

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1411926T>A (hg19) ; chr16:g.1361925T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361925T>A , CM000678.2:g.1361925T>A	GRCh38
NC_000016.9:g.1411926T>A , CM000678.1:g.1411926T>A	GRCh37
NC_000016.8:g.1351927T>A	NCBI36
NG_016985.1:g.15027T>A
NG_033129.1:g.57780A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.386T>A
ENST00000529110.2:c.371T>A	ENSP00000435349.2:p.Phe124Tyr
ENST00000529957.6:n.345T>A
ENST00000683366.1:c.*19T>A	ENSP00000507283.1:n.*19T>A
ENST00000683887.1:c.335T>A	ENSP00000506886.1:p.Phe112Tyr
ENST00000684100.1:n.281T>A
ENST00000684126.1:n.345T>A
ENST00000684688.1:n.912T>A
ENST00000204679.9:c.287T>A MANE Select	ENSP00000204679.4:p.Phe96Tyr
ENST00000204679.8:c.287T>A	ENSP00000204679.4:p.Phe96Tyr
ENST00000526820.5:c.*189T>A	ENSP00000434413.1:n.*189T>A
ENST00000527076.1:n.1303T>A
ENST00000527168.5:n.323T>A
ENST00000529110.1:c.354T>A
ENST00000529957.5:n.386T>A
NM_032520.4:c.287T>A	NP_115909.1:p.Phe96Tyr
XM_017023782.1:c.335T>A	XP_016879271.1:p.Phe112Tyr
XM_017023783.1:c.-74T>A	XP_016879272.1:n.-74T>A
NM_032520.5:c.287T>A MANE Select	NP_115909.1:p.Phe96Tyr