Canonical Allele Identifier: CA2138218064

Gene: GCH1

Linked Data

• dbSNP Id: rs2039595168
• gnomAD v4: 14-54843754-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.54843754C>T , CM000676.2:g.54843754C>T	GRCh38
NC_000014.8:g.55310472C>T , CM000676.1:g.55310472C>T	GRCh37
NC_000014.7:g.54380222C>T	NCBI36
NG_008647.1:g.64071G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000491895.7:c.*263G>A MANE Select	ENSP00000419045.2:n.*263G>A
ENST00000254299.8:n.1164G>A
ENST00000395514.5:c.*16+247G>A	ENSP00000378890.1:n.*16+247G>A
ENST00000395521.6:n.293-700G>A
ENST00000491895.6:c.*263G>A	ENSP00000419045.2:n.*263G>A
ENST00000536224.2:c.627-700G>A	ENSP00000445246.2:n.627-700G>A
ENST00000543643.6:c.*12+28G>A	ENSP00000444011.2:n.*12+28G>A
ENST00000622544.4:c.*263G>A	ENSP00000477796.1:n.*263G>A
NM_000161.2:c.*263G>A	NP_000152.1:n.*263G>A
NM_001024024.1:c.*16+247G>A	NP_001019195.1:n.*16+247G>A
NM_001024070.1:c.*12+28G>A	NP_001019241.1:n.*12+28G>A
NM_001024071.1:c.627-700G>A	NP_001019242.1:n.627-700G>A
XM_005267530.1:c.*40G>A	XP_005267587.1:n.*40G>A
XM_017021218.1:c.*263G>A	XP_016876707.1:n.*263G>A
NM_000161.3:c.*263G>A MANE Select	NP_000152.1:n.*263G>A
NM_001024070.2:c.*12+28G>A	NP_001019241.1:n.*12+28G>A
NM_001024071.2:c.627-700G>A	NP_001019242.1:n.627-700G>A
NM_001024024.2:c.*16+247G>A	NP_001019195.1:n.*16+247G>A