Canonical Allele Identifier: CA486482163

Gene: GCH1

Linked Data

• MyVariant Identifiers: chr14:g.55310747G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.54844029G>C , CM000676.2:g.54844029G>C	GRCh38
NC_000014.8:g.55310747G>C , CM000676.1:g.55310747G>C	GRCh37
NC_000014.7:g.54380497G>C	NCBI36
NG_008647.1:g.63796C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000491895.7:c.741C>G MANE Select	ENSP00000419045.2:p.Leu247=
ENST00000254299.8:n.889C>G
ENST00000395514.5:c.741C>G	ENSP00000378890.1:p.Leu247=
ENST00000395521.6:n.293-975C>G
ENST00000491895.6:c.741C>G	ENSP00000419045.2:p.Leu247=
ENST00000536224.2:c.627-975C>G	ENSP00000445246.2:n.627-975C>G
ENST00000543643.6:c.627-160C>G	ENSP00000444011.2:n.627-160C>G
ENST00000622544.4:c.741C>G	ENSP00000477796.1:p.Leu247=
NM_000161.2:c.741C>G	NP_000152.1:p.Leu247=
NM_001024024.1:c.741C>G	NP_001019195.1:p.Leu247=
NM_001024070.1:c.627-160C>G	NP_001019241.1:n.627-160C>G
NM_001024071.1:c.627-975C>G	NP_001019242.1:n.627-975C>G
XM_005267530.1:c.627-160C>G	XP_005267587.1:n.627-160C>G
XM_017021218.1:c.447C>G	XP_016876707.1:p.Leu149=
NM_000161.3:c.741C>G MANE Select	NP_000152.1:p.Leu247=
NM_001024070.2:c.627-160C>G	NP_001019241.1:n.627-160C>G
NM_001024071.2:c.627-975C>G	NP_001019242.1:n.627-975C>G
NM_001024024.2:c.741C>G	NP_001019195.1:p.Leu247=