Canonical Allele Identifier: CA260542578

Gene: GCH1

Linked Data

• dbSNP Id: rs867725971
• gnomAD v4: 14-54843519-G-A
• MyVariant Identifiers: chr14:g.55310237G>A (hg19) ; chr14:g.54843519G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.54843519G>A , CM000676.2:g.54843519G>A	GRCh38
NC_000014.8:g.55310237G>A , CM000676.1:g.55310237G>A	GRCh37
NC_000014.7:g.54379987G>A	NCBI36
NG_008647.1:g.64306C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000491895.7:c.*498C>T MANE Select	ENSP00000419045.2:n.*498C>T
ENST00000254299.8:n.1399C>T
ENST00000395514.5:c.*17-465C>T	ENSP00000378890.1:n.*17-465C>T
ENST00000395521.6:n.293-465C>T
ENST00000491895.6:c.*498C>T	ENSP00000419045.2:n.*498C>T
ENST00000536224.2:c.627-465C>T	ENSP00000445246.2:n.627-465C>T
ENST00000543643.6:c.*12+263C>T	ENSP00000444011.2:n.*12+263C>T
ENST00000622544.4:c.*498C>T	ENSP00000477796.1:n.*498C>T
NM_000161.2:c.*498C>T	NP_000152.1:n.*498C>T
NM_001024024.1:c.*17-465C>T	NP_001019195.1:n.*17-465C>T
NM_001024070.1:c.*12+263C>T	NP_001019241.1:n.*12+263C>T
NM_001024071.1:c.627-465C>T	NP_001019242.1:n.627-465C>T
XM_005267530.1:c.*275C>T	XP_005267587.1:n.*275C>T
XM_017021218.1:c.*498C>T	XP_016876707.1:n.*498C>T
NM_000161.3:c.*498C>T MANE Select	NP_000152.1:n.*498C>T
NM_001024070.2:c.*12+263C>T	NP_001019241.1:n.*12+263C>T
NM_001024071.2:c.627-465C>T	NP_001019242.1:n.627-465C>T
NM_001024024.2:c.*17-465C>T	NP_001019195.1:n.*17-465C>T