Canonical Allele Identifier: CA260543024

Gene: GCH1

Linked Data

• ClinVar Variation Id: 2936189
• ClinVar RCV Id: RCV003796475
• dbSNP Id: rs773232145
• gnomAD v4: 14-54844104-G-A
• MyVariant Identifiers: chr14:g.55310822G>A (hg19) ; chr14:g.54844104G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.54844104G>A , CM000676.2:g.54844104G>A	GRCh38
NC_000014.8:g.55310822G>A , CM000676.1:g.55310822G>A	GRCh37
NC_000014.7:g.54380572G>A	NCBI36
NG_008647.1:g.63721C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000491895.7:c.666C>T MANE Select	ENSP00000419045.2:p.Asn222=
ENST00000254299.8:n.814C>T
ENST00000395514.5:c.666C>T	ENSP00000378890.1:p.Asn222=
ENST00000395521.6:n.293-1050C>T
ENST00000491895.6:c.666C>T	ENSP00000419045.2:p.Asn222=
ENST00000536224.2:c.627-1050C>T	ENSP00000445246.2:n.627-1050C>T
ENST00000543643.6:c.627-235C>T	ENSP00000444011.2:n.627-235C>T
ENST00000622544.4:c.666C>T	ENSP00000477796.1:p.Asn222=
NM_000161.2:c.666C>T	NP_000152.1:p.Asn222=
NM_001024024.1:c.666C>T	NP_001019195.1:p.Asn222=
NM_001024070.1:c.627-235C>T	NP_001019241.1:n.627-235C>T
NM_001024071.1:c.627-1050C>T	NP_001019242.1:n.627-1050C>T
XM_005267530.1:c.627-235C>T	XP_005267587.1:n.627-235C>T
XM_017021218.1:c.372C>T	XP_016876707.1:p.Asn124=
NM_000161.3:c.666C>T MANE Select	NP_000152.1:p.Asn222=
NM_001024070.2:c.627-235C>T	NP_001019241.1:n.627-235C>T
NM_001024071.2:c.627-1050C>T	NP_001019242.1:n.627-1050C>T
NM_001024024.2:c.666C>T	NP_001019195.1:p.Asn222=