Canonical Allele Identifier: CA389787165

Gene: GCH1

Linked Data

• MyVariant Identifiers: chr14:g.55310827T>G (hg19) ; chr14:g.54844109T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.54844109T>G , CM000676.2:g.54844109T>G	GRCh38
NC_000014.8:g.55310827T>G , CM000676.1:g.55310827T>G	GRCh37
NC_000014.7:g.54380577T>G	NCBI36
NG_008647.1:g.63716A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000491895.7:c.661A>C MANE Select	ENSP00000419045.2:p.Met221Leu
ENST00000254299.8:n.809A>C
ENST00000395514.5:c.661A>C	ENSP00000378890.1:p.Met221Leu
ENST00000395521.6:n.293-1055A>C
ENST00000491895.6:c.661A>C	ENSP00000419045.2:p.Met221Leu
ENST00000536224.2:c.627-1055A>C	ENSP00000445246.2:n.627-1055A>C
ENST00000543643.6:c.627-240A>C	ENSP00000444011.2:n.627-240A>C
ENST00000622544.4:c.661A>C	ENSP00000477796.1:p.Met221Leu
NM_000161.2:c.661A>C	NP_000152.1:p.Met221Leu
NM_001024024.1:c.661A>C	NP_001019195.1:p.Met221Leu
NM_001024070.1:c.627-240A>C	NP_001019241.1:n.627-240A>C
NM_001024071.1:c.627-1055A>C	NP_001019242.1:n.627-1055A>C
XM_005267530.1:c.627-240A>C	XP_005267587.1:n.627-240A>C
XM_017021218.1:c.367A>C	XP_016876707.1:p.Met123Leu
NM_000161.3:c.661A>C MANE Select	NP_000152.1:p.Met221Leu
NM_001024070.2:c.627-240A>C	NP_001019241.1:n.627-240A>C
NM_001024071.2:c.627-1055A>C	NP_001019242.1:n.627-1055A>C
NM_001024024.2:c.661A>C	NP_001019195.1:p.Met221Leu