Canonical Allele Identifier: CA614283811
Gene: GCH1 HGNC NCBI

Linked Data

dbSNP Id: rs1394301169

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.54843694T>A , CM000676.2:g.54843694T>A GRCh38
NC_000014.8:g.55310412T>A , CM000676.1:g.55310412T>A GRCh37
NC_000014.7:g.54380162T>A NCBI36
NG_008647.1:g.64131A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000491895.7:c.*323A>T MANE Select ENSP00000419045.2:n.*323A>T
ENST00000254299.8:n.1224A>T
ENST00000395514.5:c.*16+307A>T ENSP00000378890.1:n.*16+307A>T
ENST00000395521.6:n.293-640A>T
ENST00000491895.6:c.*323A>T ENSP00000419045.2:n.*323A>T
ENST00000536224.2:c.627-640A>T ENSP00000445246.2:n.627-640A>T
ENST00000543643.6:c.*12+88A>T ENSP00000444011.2:n.*12+88A>T
ENST00000622544.4:c.*323A>T ENSP00000477796.1:n.*323A>T
NM_000161.2:c.*323A>T NP_000152.1:n.*323A>T
NM_001024024.1:c.*16+307A>T NP_001019195.1:n.*16+307A>T
NM_001024070.1:c.*12+88A>T NP_001019241.1:n.*12+88A>T
NM_001024071.1:c.627-640A>T NP_001019242.1:n.627-640A>T
XM_005267530.1:c.*100A>T XP_005267587.1:n.*100A>T
XM_017021218.1:c.*323A>T XP_016876707.1:n.*323A>T
NM_000161.3:c.*323A>T MANE Select NP_000152.1:n.*323A>T
NM_001024070.2:c.*12+88A>T NP_001019241.1:n.*12+88A>T
NM_001024071.2:c.627-640A>T NP_001019242.1:n.627-640A>T
NM_001024024.2:c.*16+307A>T NP_001019195.1:n.*16+307A>T