Canonical Allele Identifier: CA2801650435

Gene: GCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.54843700A>G , CM000676.2:g.54843700A>G	GRCh38
NC_000014.8:g.55310418A>G , CM000676.1:g.55310418A>G	GRCh37
NC_000014.7:g.54380168A>G	NCBI36
NG_008647.1:g.64125T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000491895.7:c.*317T>C MANE Select	ENSP00000419045.2:n.*317T>C
ENST00000254299.8:n.1218T>C
ENST00000395514.5:c.*16+301T>C	ENSP00000378890.1:n.*16+301T>C
ENST00000395521.6:n.293-646T>C
ENST00000491895.6:c.*317T>C	ENSP00000419045.2:n.*317T>C
ENST00000536224.2:c.627-646T>C	ENSP00000445246.2:n.627-646T>C
ENST00000543643.6:c.*12+82T>C	ENSP00000444011.2:n.*12+82T>C
ENST00000622544.4:c.*317T>C	ENSP00000477796.1:n.*317T>C
NM_000161.2:c.*317T>C	NP_000152.1:n.*317T>C
NM_001024024.1:c.*16+301T>C	NP_001019195.1:n.*16+301T>C
NM_001024070.1:c.*12+82T>C	NP_001019241.1:n.*12+82T>C
NM_001024071.1:c.627-646T>C	NP_001019242.1:n.627-646T>C
XM_005267530.1:c.*94T>C	XP_005267587.1:n.*94T>C
XM_017021218.1:c.*317T>C	XP_016876707.1:n.*317T>C
NM_000161.3:c.*317T>C MANE Select	NP_000152.1:n.*317T>C
NM_001024070.2:c.*12+82T>C	NP_001019241.1:n.*12+82T>C
NM_001024071.2:c.627-646T>C	NP_001019242.1:n.627-646T>C
NM_001024024.2:c.*16+301T>C	NP_001019195.1:n.*16+301T>C