Canonical Allele Identifier: CA389793914

Gene: GCH1

Linked Data

• ClinVar Variation Id: 1983309
• ClinVar RCV Id: RCV002795250
• gnomAD v4: 14-54902449-G-C
• MyVariant Identifiers: chr14:g.55369167G>C (hg19) ; chr14:g.54902449G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.54902449G>C , CM000676.2:g.54902449G>C	GRCh38
NC_000014.8:g.55369167G>C , CM000676.1:g.55369167G>C	GRCh37
NC_000014.7:g.54438917G>C	NCBI36
NG_008647.1:g.5376C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000491895.7:c.215C>G MANE Select	ENSP00000419045.2:p.Ala72Gly
ENST00000254299.8:n.363C>G
ENST00000395514.5:c.215C>G	ENSP00000378890.1:p.Ala72Gly
ENST00000491895.6:c.215C>G	ENSP00000419045.2:p.Ala72Gly
ENST00000536224.2:c.215C>G	ENSP00000445246.2:p.Ala72Gly
ENST00000543643.6:c.215C>G	ENSP00000444011.2:p.Ala72Gly
ENST00000622544.4:c.215C>G	ENSP00000477796.1:p.Ala72Gly
NM_000161.2:c.215C>G	NP_000152.1:p.Ala72Gly
NM_001024024.1:c.215C>G	NP_001019195.1:p.Ala72Gly
NM_001024070.1:c.215C>G	NP_001019241.1:p.Ala72Gly
NM_001024071.1:c.215C>G	NP_001019242.1:p.Ala72Gly
XM_005267530.1:c.215C>G	XP_005267587.1:p.Ala72Gly
XM_011536643.1:c.215C>G	XP_011534945.1:p.Ala72Gly
NM_000161.3:c.215C>G MANE Select	NP_000152.1:p.Ala72Gly
NM_001024070.2:c.215C>G	NP_001019241.1:p.Ala72Gly
NM_001024071.2:c.215C>G	NP_001019242.1:p.Ala72Gly
NM_001024024.2:c.215C>G	NP_001019195.1:p.Ala72Gly