Canonical Allele Identifier: CA2624944535

Gene: GCH1

Linked Data

• gnomAD v4: 14-54843690-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.54843690A>G , CM000676.2:g.54843690A>G	GRCh38
NC_000014.8:g.55310408A>G , CM000676.1:g.55310408A>G	GRCh37
NC_000014.7:g.54380158A>G	NCBI36
NG_008647.1:g.64135T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000491895.7:c.*327T>C MANE Select	ENSP00000419045.2:n.*327T>C
ENST00000254299.8:n.1228T>C
ENST00000395514.5:c.*16+311T>C	ENSP00000378890.1:n.*16+311T>C
ENST00000395521.6:n.293-636T>C
ENST00000491895.6:c.*327T>C	ENSP00000419045.2:n.*327T>C
ENST00000536224.2:c.627-636T>C	ENSP00000445246.2:n.627-636T>C
ENST00000543643.6:c.*12+92T>C	ENSP00000444011.2:n.*12+92T>C
ENST00000622544.4:c.*327T>C	ENSP00000477796.1:n.*327T>C
NM_000161.2:c.*327T>C	NP_000152.1:n.*327T>C
NM_001024024.1:c.*16+311T>C	NP_001019195.1:n.*16+311T>C
NM_001024070.1:c.*12+92T>C	NP_001019241.1:n.*12+92T>C
NM_001024071.1:c.627-636T>C	NP_001019242.1:n.627-636T>C
XM_005267530.1:c.*104T>C	XP_005267587.1:n.*104T>C
XM_017021218.1:c.*327T>C	XP_016876707.1:n.*327T>C
NM_000161.3:c.*327T>C MANE Select	NP_000152.1:n.*327T>C
NM_001024070.2:c.*12+92T>C	NP_001019241.1:n.*12+92T>C
NM_001024071.2:c.627-636T>C	NP_001019242.1:n.627-636T>C
NM_001024024.2:c.*16+311T>C	NP_001019195.1:n.*16+311T>C