Canonical Allele Identifier: CA7193462
Gene: GCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 313386
dbSNP Id: rs841

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.54843774G>A , CM000676.2:g.54843774G>A GRCh38
NC_000014.8:g.55310492G>A , CM000676.1:g.55310492G>A GRCh37
NC_000014.7:g.54380242G>A NCBI36
NG_008647.1:g.64051C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000395514.5:c.*16+227C>T ENSP00000378890.1:p.=
ENST00000491895.6:c.*243C>T ENSP00000419045.2:p.=
ENST00000536224.2:c.627-720C>T ENSP00000445246.2:p.=
ENST00000543643.6:c.*12+8C>T ENSP00000444011.2:p.=
ENST00000622544.4:c.*243C>T ENSP00000477796.1:p.=
NM_000161.2:c.*243C>T NP_000152.1:p.=
NM_001024024.1:c.*16+227C>T NP_001019195.1:p.=
NM_001024070.1:c.*12+8C>T NP_001019241.1:p.=
NM_001024071.1:c.627-720C>T NP_001019242.1:p.=
XM_005267530.1:c.*20C>T XP_005267587.1:p.=
XM_017021218.1:c.*243C>T XP_016876707.1:p.=
NM_000161.3:c.*243C>T MANE Select NP_000152.1:p.=
NM_001024070.2:c.*12+8C>T NP_001019241.1:p.=
NM_001024071.2:c.627-720C>T NP_001019242.1:p.=
NM_001024024.2:c.*16+227C>T NP_001019195.1:p.=