Canonical Allele Identifier: CA7193657
Gene: GCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 807116
ClinVar RCV Id: RCV000995178
dbSNP Id: rs747393714

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.54902430G>C , CM000676.2:g.54902430G>C GRCh38
NC_000014.8:g.55369148G>C , CM000676.1:g.55369148G>C GRCh37
NC_000014.7:g.54438898G>C NCBI36
NG_008647.1:g.5395C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000491895.7:c.234C>G MANE Select ENSP00000419045.2:p.Ile78Met
ENST00000254299.8:n.382C>G
ENST00000395514.5:c.234C>G ENSP00000378890.1:p.Ile78Met
ENST00000395521.6:n.17C>G
ENST00000491895.6:c.234C>G ENSP00000419045.2:p.Ile78Met
ENST00000536224.2:c.234C>G ENSP00000445246.2:p.Ile78Met
ENST00000543643.6:c.234C>G ENSP00000444011.2:p.Ile78Met
ENST00000622544.4:c.234C>G ENSP00000477796.1:p.Ile78Met
NM_000161.2:c.234C>G NP_000152.1:p.Ile78Met
NM_001024024.1:c.234C>G NP_001019195.1:p.Ile78Met
NM_001024070.1:c.234C>G NP_001019241.1:p.Ile78Met
NM_001024071.1:c.234C>G NP_001019242.1:p.Ile78Met
XM_005267530.1:c.234C>G XP_005267587.1:p.Ile78Met
XM_011536643.1:c.234C>G XP_011534945.1:p.Ile78Met
NM_000161.3:c.234C>G MANE Select NP_000152.1:p.Ile78Met
NM_001024070.2:c.234C>G NP_001019241.1:p.Ile78Met
NM_001024071.2:c.234C>G NP_001019242.1:p.Ile78Met
NM_001024024.2:c.234C>G NP_001019195.1:p.Ile78Met