Canonical Allele Identifier: CA2138218454
Gene: GCH1 HGNC NCBI

Linked Data

dbSNP Id: rs2039613920

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.54844732C>T , CM000676.2:g.54844732C>T GRCh38
NC_000014.8:g.55311450C>T , CM000676.1:g.55311450C>T GRCh37
NC_000014.7:g.54381200C>T NCBI36
NG_008647.1:g.63093G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000491895.7:c.627-589G>A MANE Select ENSP00000419045.2:n.627-589G>A
ENST00000254299.8:n.775-589G>A
ENST00000395514.5:c.627-589G>A ENSP00000378890.1:n.627-589G>A
ENST00000395521.6:n.293-1678G>A
ENST00000491895.6:c.627-589G>A ENSP00000419045.2:n.627-589G>A
ENST00000536224.2:c.626+1036G>A ENSP00000445246.2:n.626+1036G>A
ENST00000543643.6:c.627-863G>A ENSP00000444011.2:n.627-863G>A
ENST00000622544.4:c.627-589G>A ENSP00000477796.1:n.627-589G>A
NM_000161.2:c.627-589G>A NP_000152.1:n.627-589G>A
NM_001024024.1:c.627-589G>A NP_001019195.1:n.627-589G>A
NM_001024070.1:c.627-863G>A NP_001019241.1:n.627-863G>A
NM_001024071.1:c.626+1036G>A NP_001019242.1:n.626+1036G>A
XM_005267530.1:c.627-863G>A XP_005267587.1:n.627-863G>A
XM_017021218.1:c.333-589G>A XP_016876707.1:n.333-589G>A
NM_000161.3:c.627-589G>A MANE Select NP_000152.1:n.627-589G>A
NM_001024070.2:c.627-863G>A NP_001019241.1:n.627-863G>A
NM_001024071.2:c.626+1036G>A NP_001019242.1:n.626+1036G>A
NM_001024024.2:c.627-589G>A NP_001019195.1:n.627-589G>A