Canonical Allele Identifier: CA2624944547

Gene: GCH1

Linked Data

• gnomAD v4: 14-54843728-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.54843728C>T , CM000676.2:g.54843728C>T	GRCh38
NC_000014.8:g.55310446C>T , CM000676.1:g.55310446C>T	GRCh37
NC_000014.7:g.54380196C>T	NCBI36
NG_008647.1:g.64097G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000491895.7:c.*289G>A MANE Select	ENSP00000419045.2:n.*289G>A
ENST00000254299.8:n.1190G>A
ENST00000395514.5:c.*16+273G>A	ENSP00000378890.1:n.*16+273G>A
ENST00000395521.6:n.293-674G>A
ENST00000491895.6:c.*289G>A	ENSP00000419045.2:n.*289G>A
ENST00000536224.2:c.627-674G>A	ENSP00000445246.2:n.627-674G>A
ENST00000543643.6:c.*12+54G>A	ENSP00000444011.2:n.*12+54G>A
ENST00000622544.4:c.*289G>A	ENSP00000477796.1:n.*289G>A
NM_000161.2:c.*289G>A	NP_000152.1:n.*289G>A
NM_001024024.1:c.*16+273G>A	NP_001019195.1:n.*16+273G>A
NM_001024070.1:c.*12+54G>A	NP_001019241.1:n.*12+54G>A
NM_001024071.1:c.627-674G>A	NP_001019242.1:n.627-674G>A
XM_005267530.1:c.*66G>A	XP_005267587.1:n.*66G>A
XM_017021218.1:c.*289G>A	XP_016876707.1:n.*289G>A
NM_000161.3:c.*289G>A MANE Select	NP_000152.1:n.*289G>A
NM_001024070.2:c.*12+54G>A	NP_001019241.1:n.*12+54G>A
NM_001024071.2:c.627-674G>A	NP_001019242.1:n.627-674G>A
NM_001024024.2:c.*16+273G>A	NP_001019195.1:n.*16+273G>A