Canonical Allele Identifier: CA389787371

Gene: GCH1

Linked Data

• COSMIC: COSM1748894
• MyVariant Identifiers: chr14:g.55312546A>T (hg19) ; chr14:g.54845828A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.54845828A>T , CM000676.2:g.54845828A>T	GRCh38
NC_000014.8:g.55312546A>T , CM000676.1:g.55312546A>T	GRCh37
NC_000014.7:g.54382296A>T	NCBI36
NG_008647.1:g.61997T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000491895.7:c.566T>A MANE Select	ENSP00000419045.2:p.Ile189Asn
ENST00000254299.8:n.714T>A
ENST00000395514.5:c.566T>A	ENSP00000378890.1:p.Ile189Asn
ENST00000395521.6:n.293-2774T>A
ENST00000491895.6:c.566T>A	ENSP00000419045.2:p.Ile189Asn
ENST00000536224.2:c.566T>A	ENSP00000445246.2:p.Ile189Asn
ENST00000543643.6:c.566T>A	ENSP00000444011.2:p.Ile189Asn
ENST00000622544.4:c.566T>A	ENSP00000477796.1:p.Ile189Asn
NM_000161.2:c.566T>A	NP_000152.1:p.Ile189Asn
NM_001024024.1:c.566T>A	NP_001019195.1:p.Ile189Asn
NM_001024070.1:c.566T>A	NP_001019241.1:p.Ile189Asn
NM_001024071.1:c.566T>A	NP_001019242.1:p.Ile189Asn
XM_005267530.1:c.566T>A	XP_005267587.1:p.Ile189Asn
XM_017021218.1:c.272T>A	XP_016876707.1:p.Ile91Asn
NM_000161.3:c.566T>A MANE Select	NP_000152.1:p.Ile189Asn
NM_001024070.2:c.566T>A	NP_001019241.1:p.Ile189Asn
NM_001024071.2:c.566T>A	NP_001019242.1:p.Ile189Asn
NM_001024024.2:c.566T>A	NP_001019195.1:p.Ile189Asn