Canonical Allele Identifier: CA394186735

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1361874-A-G
• MyVariant Identifiers: chr16:g.1411875A>G (hg19) ; chr16:g.1361874A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361874A>G , CM000678.2:g.1361874A>G	GRCh38
NC_000016.9:g.1411875A>G , CM000678.1:g.1411875A>G	GRCh37
NC_000016.8:g.1351876A>G	NCBI36
NG_016985.1:g.14976A>G
NG_033129.1:g.57831T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.335A>G
ENST00000529110.2:c.320A>G	ENSP00000435349.2:p.Tyr107Cys
ENST00000529957.6:n.294A>G
ENST00000683366.1:c.181A>G	ENSP00000507283.1:p.Thr61Ala
ENST00000683887.1:c.284A>G	ENSP00000506886.1:p.Tyr95Cys
ENST00000684100.1:n.230A>G
ENST00000684126.1:n.294A>G
ENST00000684688.1:n.861A>G
ENST00000204679.9:c.236A>G MANE Select	ENSP00000204679.4:p.Tyr79Cys
ENST00000204679.8:c.236A>G	ENSP00000204679.4:p.Tyr79Cys
ENST00000526820.5:c.*138A>G	ENSP00000434413.1:n.*138A>G
ENST00000527076.1:n.1252A>G
ENST00000527168.5:n.272A>G
ENST00000529110.1:c.303A>G
ENST00000529957.5:n.335A>G
NM_032520.4:c.236A>G	NP_115909.1:p.Tyr79Cys
XM_017023782.1:c.284A>G	XP_016879271.1:p.Tyr95Cys
XM_017023783.1:c.-125A>G	XP_016879272.1:n.-125A>G
NM_032520.5:c.236A>G MANE Select	NP_115909.1:p.Tyr79Cys