Canonical Allele Identifier: CA963355368

Gene: GCH1

Linked Data

• dbSNP Id: rs2039593399
• gnomAD v3: 14-54843641-T-C
• gnomAD v4: 14-54843641-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.54843641T>C , CM000676.2:g.54843641T>C	GRCh38
NC_000014.8:g.55310359T>C , CM000676.1:g.55310359T>C	GRCh37
NC_000014.7:g.54380109T>C	NCBI36
NG_008647.1:g.64184A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000491895.7:c.*376A>G MANE Select	ENSP00000419045.2:n.*376A>G
ENST00000254299.8:n.1277A>G
ENST00000395514.5:c.*16+360A>G	ENSP00000378890.1:n.*16+360A>G
ENST00000395521.6:n.293-587A>G
ENST00000491895.6:c.*376A>G	ENSP00000419045.2:n.*376A>G
ENST00000536224.2:c.627-587A>G	ENSP00000445246.2:n.627-587A>G
ENST00000543643.6:c.*12+141A>G	ENSP00000444011.2:n.*12+141A>G
ENST00000622544.4:c.*376A>G	ENSP00000477796.1:n.*376A>G
NM_000161.2:c.*376A>G	NP_000152.1:n.*376A>G
NM_001024024.1:c.*16+360A>G	NP_001019195.1:n.*16+360A>G
NM_001024070.1:c.*12+141A>G	NP_001019241.1:n.*12+141A>G
NM_001024071.1:c.627-587A>G	NP_001019242.1:n.627-587A>G
XM_005267530.1:c.*153A>G	XP_005267587.1:n.*153A>G
XM_017021218.1:c.*376A>G	XP_016876707.1:n.*376A>G
NM_000161.3:c.*376A>G MANE Select	NP_000152.1:n.*376A>G
NM_001024070.2:c.*12+141A>G	NP_001019241.1:n.*12+141A>G
NM_001024071.2:c.627-587A>G	NP_001019242.1:n.627-587A>G
NM_001024024.2:c.*16+360A>G	NP_001019195.1:n.*16+360A>G