Canonical Allele Identifier: CA7193462
Gene: GCH1 HGNC NCBI
MyVariant.info:
GRCh38 chr14:g.54843774G>A
GRCh37 chr14:g.55310492G>A
gnomAD v2:
14:55310492 G / A
gnomAD v3:
14:54843774 G / A
gnomAD v4:
chr14-54843774-G-A
Joint Max Group AF 0.3788151 (EAS)
Genomes Max Group AF 0.34192529 (EAS)
Exomes Max Group AF 0.382156 (EAS)
JSON-LD

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
ENST00000491895.7:c.*243C>T MANE Select ENSP00000419045.2:n.*243C>T
ENST00000254299.8:n.1144C>T
ENST00000395514.5:c.*16+227C>T ENSP00000378890.1:n.*16+227C>T
ENST00000395521.6:n.293-720C>T
ENST00000491895.6:c.*243C>T ENSP00000419045.2:n.*243C>T
ENST00000536224.2:c.627-720C>T ENSP00000445246.2:n.627-720C>T
ENST00000543643.6:c.*12+8C>T ENSP00000444011.2:n.*12+8C>T
ENST00000622544.4:c.*243C>T ENSP00000477796.1:n.*243C>T
NM_000161.2:c.*243C>T NP_000152.1:n.*243C>T
NM_001024024.1:c.*16+227C>T NP_001019195.1:n.*16+227C>T
NM_001024070.1:c.*12+8C>T NP_001019241.1:n.*12+8C>T
NM_001024071.1:c.627-720C>T NP_001019242.1:n.627-720C>T
XM_005267530.1:c.*20C>T XP_005267587.1:n.*20C>T
XM_017021218.1:c.*243C>T XP_016876707.1:n.*243C>T
NM_000161.3:c.*243C>T MANE Select NP_000152.1:n.*243C>T
NM_001024070.2:c.*12+8C>T NP_001019241.1:n.*12+8C>T
NM_001024071.2:c.627-720C>T NP_001019242.1:n.627-720C>T
NM_001024024.2:c.*16+227C>T NP_001019195.1:n.*16+227C>T
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