Canonical Allele Identifier: CA389786581

Gene: GCH1

Linked Data

• gnomAD v4: 14-54844020-G-C
• MyVariant Identifiers: chr14:g.55310738G>C (hg19) ; chr14:g.54844020G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.54844020G>C , CM000676.2:g.54844020G>C	GRCh38
NC_000014.8:g.55310738G>C , CM000676.1:g.55310738G>C	GRCh37
NC_000014.7:g.54380488G>C	NCBI36
NG_008647.1:g.63805C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000491895.7:c.750C>G MANE Select	ENSP00000419045.2:p.Ser250Arg
ENST00000254299.8:n.898C>G
ENST00000395514.5:c.750C>G	ENSP00000378890.1:p.Ser250Arg
ENST00000395521.6:n.293-966C>G
ENST00000491895.6:c.750C>G	ENSP00000419045.2:p.Ser250Arg
ENST00000536224.2:c.627-966C>G	ENSP00000445246.2:n.627-966C>G
ENST00000543643.6:c.627-151C>G	ENSP00000444011.2:n.627-151C>G
ENST00000622544.4:c.750C>G	ENSP00000477796.1:p.Ser250Arg
NM_000161.2:c.750C>G	NP_000152.1:p.Ser250Arg
NM_001024024.1:c.750C>G	NP_001019195.1:p.Ser250Arg
NM_001024070.1:c.627-151C>G	NP_001019241.1:n.627-151C>G
NM_001024071.1:c.627-966C>G	NP_001019242.1:n.627-966C>G
XM_005267530.1:c.627-151C>G	XP_005267587.1:n.627-151C>G
XM_017021218.1:c.456C>G	XP_016876707.1:p.Ser152Arg
NM_000161.3:c.750C>G MANE Select	NP_000152.1:p.Ser250Arg
NM_001024070.2:c.627-151C>G	NP_001019241.1:n.627-151C>G
NM_001024071.2:c.627-966C>G	NP_001019242.1:n.627-966C>G
NM_001024024.2:c.750C>G	NP_001019195.1:p.Ser250Arg