Canonical Allele Identifier: CA7807706
Gene: GNPTG HGNC NCBI

Linked Data

dbSNP Id: rs562132501
gnomAD v2: 16-1412243-C-T
gnomAD v3: 16-1362242-C-T
gnomAD v4: 16-1362242-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1362242C>T , CM000678.2:g.1362242C>T GRCh38
NC_000016.9:g.1412243C>T , CM000678.1:g.1412243C>T GRCh37
NC_000016.8:g.1352244C>T NCBI36
NG_016985.1:g.15344C>T
NG_033129.1:g.57463G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000527168.6:n.547C>T
ENST00000529110.2:c.532C>T ENSP00000435349.2:p.His178Tyr
ENST00000529957.6:n.506C>T
ENST00000683366.1:c.*180C>T ENSP00000507283.1:n.*180C>T
ENST00000683887.1:c.496C>T ENSP00000506886.1:p.His166Tyr
ENST00000684100.1:n.442C>T
ENST00000684126.1:n.506C>T
ENST00000684688.1:n.1073C>T
ENST00000204679.9:c.448C>T MANE Select ENSP00000204679.4:p.His150Tyr
ENST00000204679.8:c.448C>T ENSP00000204679.4:p.His150Tyr
ENST00000527076.1:n.1464C>T
ENST00000527168.5:n.484C>T
ENST00000529110.1:c.515C>T
ENST00000529957.5:n.547C>T
NM_032520.4:c.448C>T NP_115909.1:p.His150Tyr
XM_017023782.1:c.496C>T XP_016879271.1:p.His166Tyr
XM_017023783.1:c.88C>T XP_016879272.1:p.His30Tyr
NM_032520.5:c.448C>T MANE Select NP_115909.1:p.His150Tyr