Canonical Allele Identifier: CA2624944464

Gene: GCH1

Linked Data

• gnomAD v4: 14-54843570-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.54843570C>A , CM000676.2:g.54843570C>A	GRCh38
NC_000014.8:g.55310288C>A , CM000676.1:g.55310288C>A	GRCh37
NC_000014.7:g.54380038C>A	NCBI36
NG_008647.1:g.64255G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000491895.7:c.*447G>T MANE Select	ENSP00000419045.2:n.*447G>T
ENST00000254299.8:n.1348G>T
ENST00000395514.5:c.*16+431G>T	ENSP00000378890.1:n.*16+431G>T
ENST00000395521.6:n.293-516G>T
ENST00000491895.6:c.*447G>T	ENSP00000419045.2:n.*447G>T
ENST00000536224.2:c.627-516G>T	ENSP00000445246.2:n.627-516G>T
ENST00000543643.6:c.*12+212G>T	ENSP00000444011.2:n.*12+212G>T
ENST00000622544.4:c.*447G>T	ENSP00000477796.1:n.*447G>T
NM_000161.2:c.*447G>T	NP_000152.1:n.*447G>T
NM_001024024.1:c.*16+431G>T	NP_001019195.1:n.*16+431G>T
NM_001024070.1:c.*12+212G>T	NP_001019241.1:n.*12+212G>T
NM_001024071.1:c.627-516G>T	NP_001019242.1:n.627-516G>T
XM_005267530.1:c.*224G>T	XP_005267587.1:n.*224G>T
XM_017021218.1:c.*447G>T	XP_016876707.1:n.*447G>T
NM_000161.3:c.*447G>T MANE Select	NP_000152.1:n.*447G>T
NM_001024070.2:c.*12+212G>T	NP_001019241.1:n.*12+212G>T
NM_001024071.2:c.627-516G>T	NP_001019242.1:n.627-516G>T
NM_001024024.2:c.*16+431G>T	NP_001019195.1:n.*16+431G>T