Canonical Allele Identifier: CA493026567

Gene: GNPTG

Linked Data

• dbSNP Id: rs2034900264
• MyVariant Identifiers: chr16:g.1412105C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362104C>T , CM000678.2:g.1362104C>T	GRCh38
NC_000016.9:g.1412105C>T , CM000678.1:g.1412105C>T	GRCh37
NC_000016.8:g.1352106C>T	NCBI36
NG_016985.1:g.15206C>T
NG_033129.1:g.57601G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.483C>T
ENST00000529110.2:c.468C>T	ENSP00000435349.2:p.Ala156=
ENST00000529957.6:n.442C>T
ENST00000683366.1:c.*116C>T	ENSP00000507283.1:n.*116C>T
ENST00000683887.1:c.432C>T	ENSP00000506886.1:p.Ala144=
ENST00000684100.1:n.378C>T
ENST00000684126.1:n.442C>T
ENST00000684688.1:n.1009C>T
ENST00000204679.9:c.384C>T MANE Select	ENSP00000204679.4:p.Ala128=
ENST00000204679.8:c.384C>T	ENSP00000204679.4:p.Ala128=
ENST00000526820.5:c.*286C>T	ENSP00000434413.1:n.*286C>T
ENST00000527076.1:n.1400C>T
ENST00000527168.5:n.420C>T
ENST00000529110.1:c.451C>T
ENST00000529957.5:n.483C>T
NM_032520.4:c.384C>T	NP_115909.1:p.Ala128=
XM_017023782.1:c.432C>T	XP_016879271.1:p.Ala144=
XM_017023783.1:c.24C>T	XP_016879272.1:p.Ala8=
NM_032520.5:c.384C>T MANE Select	NP_115909.1:p.Ala128=