Canonical Allele Identifier: CA120281
Gene: GCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 9286
dbSNP Id: rs104894442

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.54844023C>G , CM000676.2:g.54844023C>G GRCh38
NC_000014.8:g.55310741C>G , CM000676.1:g.55310741C>G GRCh37
NC_000014.7:g.54380491C>G NCBI36
NG_008647.1:g.63802G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000395514.5:c.747G>C ENSP00000378890.1:p.Arg249Ser
ENST00000491895.6:c.747G>C ENSP00000419045.2:p.Arg249Ser
ENST00000536224.2:c.627-969G>C ENSP00000445246.2:p.=
ENST00000543643.6:c.627-154G>C ENSP00000444011.2:p.=
ENST00000622544.4:c.747G>C ENSP00000477796.1:p.Arg249Ser
NM_000161.2:c.747G>C NP_000152.1:p.Arg249Ser
NM_001024024.1:c.747G>C NP_001019195.1:p.Arg249Ser
NM_001024070.1:c.627-154G>C NP_001019241.1:p.=
NM_001024071.1:c.627-969G>C NP_001019242.1:p.=
XM_005267530.1:c.627-154G>C XP_005267587.1:p.=
XM_017021218.1:c.453G>C XP_016876707.1:p.Arg151Ser
NM_000161.3:c.747G>C MANE Select NP_000152.1:p.Arg249Ser
NM_001024070.2:c.627-154G>C NP_001019241.1:p.=
NM_001024071.2:c.627-969G>C NP_001019242.1:p.=
NM_001024024.2:c.747G>C NP_001019195.1:p.Arg249Ser