Canonical Allele Identifier: CA389786584

Gene: GCH1

Linked Data

• MyVariant Identifiers: chr14:g.55310739C>A (hg19) ; chr14:g.54844021C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.54844021C>A , CM000676.2:g.54844021C>A	GRCh38
NC_000014.8:g.55310739C>A , CM000676.1:g.55310739C>A	GRCh37
NC_000014.7:g.54380489C>A	NCBI36
NG_008647.1:g.63804G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000491895.7:c.749G>T MANE Select	ENSP00000419045.2:p.Ser250Ile
ENST00000254299.8:n.897G>T
ENST00000395514.5:c.749G>T	ENSP00000378890.1:p.Ser250Ile
ENST00000395521.6:n.293-967G>T
ENST00000491895.6:c.749G>T	ENSP00000419045.2:p.Ser250Ile
ENST00000536224.2:c.627-967G>T	ENSP00000445246.2:n.627-967G>T
ENST00000543643.6:c.627-152G>T	ENSP00000444011.2:n.627-152G>T
ENST00000622544.4:c.749G>T	ENSP00000477796.1:p.Ser250Ile
NM_000161.2:c.749G>T	NP_000152.1:p.Ser250Ile
NM_001024024.1:c.749G>T	NP_001019195.1:p.Ser250Ile
NM_001024070.1:c.627-152G>T	NP_001019241.1:n.627-152G>T
NM_001024071.1:c.627-967G>T	NP_001019242.1:n.627-967G>T
XM_005267530.1:c.627-152G>T	XP_005267587.1:n.627-152G>T
XM_017021218.1:c.455G>T	XP_016876707.1:p.Ser152Ile
NM_000161.3:c.749G>T MANE Select	NP_000152.1:p.Ser250Ile
NM_001024070.2:c.627-152G>T	NP_001019241.1:n.627-152G>T
NM_001024071.2:c.627-967G>T	NP_001019242.1:n.627-967G>T
NM_001024024.2:c.749G>T	NP_001019195.1:p.Ser250Ile