Canonical Allele Identifier: CA7193689
Gene: GCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 255397
dbSNP Id: rs28458175

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.54902703G>A , CM000676.2:g.54902703G>A GRCh38
NC_000014.8:g.55369421G>A , CM000676.1:g.55369421G>A GRCh37
NC_000014.7:g.54439171G>A NCBI36
NG_008647.1:g.5122C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000491895.7:c.-40C>T MANE Select ENSP00000419045.2:n.-40C>T
ENST00000254299.8:n.109C>T
ENST00000395514.5:c.-40C>T ENSP00000378890.1:n.-40C>T
ENST00000491895.6:c.-40C>T ENSP00000419045.2:n.-40C>T
ENST00000536224.2:c.-40C>T ENSP00000445246.2:n.-40C>T
ENST00000543643.6:c.-40C>T ENSP00000444011.2:n.-40C>T
ENST00000622544.4:c.-40C>T ENSP00000477796.1:n.-40C>T
NM_000161.2:c.-40C>T NP_000152.1:n.-40C>T
NM_001024024.1:c.-40C>T NP_001019195.1:n.-40C>T
NM_001024070.1:c.-40C>T NP_001019241.1:n.-40C>T
NM_001024071.1:c.-40C>T NP_001019242.1:n.-40C>T
XM_005267530.1:c.-40C>T XP_005267587.1:n.-40C>T
XM_011536643.1:c.-40C>T XP_011534945.1:n.-40C>T
NM_000161.3:c.-40C>T MANE Select NP_000152.1:n.-40C>T
NM_001024070.2:c.-40C>T NP_001019241.1:n.-40C>T
NM_001024071.2:c.-40C>T NP_001019242.1:n.-40C>T
NM_001024024.2:c.-40C>T NP_001019195.1:n.-40C>T