Canonical Allele Identifier: CA260542664

Gene: GCH1

Linked Data

• dbSNP Id: rs547596660
• gnomAD v4: 14-54843707-G-GA
• MyVariant Identifiers: chr14:g.55310425_55310426insA (hg19) ; chr14:g.54843707_54843708insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.54843714dup , CM000676.2:g.54843714dup	GRCh38
NC_000014.8:g.55310432dup , CM000676.1:g.55310432dup	GRCh37
NC_000014.7:g.54380182dup	NCBI36
NG_008647.1:g.64117dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000491895.7:c.*309dup MANE Select	ENSP00000419045.2:n.*309dup
ENST00000254299.8:n.1210dup
ENST00000395514.5:c.*16+293dup	ENSP00000378890.1:n.*16+293dup
ENST00000395521.6:n.293-654dup
ENST00000491895.6:c.*309dup	ENSP00000419045.2:n.*309dup
ENST00000536224.2:c.627-654dup	ENSP00000445246.2:n.627-654dup
ENST00000543643.6:c.*12+74dup	ENSP00000444011.2:n.*12+74dup
ENST00000622544.4:c.*309dup	ENSP00000477796.1:n.*309dup
NM_000161.2:c.*309dup	NP_000152.1:n.*309dup
NM_001024024.1:c.*16+293dup	NP_001019195.1:n.*16+293dup
NM_001024070.1:c.*12+74dup	NP_001019241.1:n.*12+74dup
NM_001024071.1:c.627-654dup	NP_001019242.1:n.627-654dup
XM_005267530.1:c.*86dup	XP_005267587.1:n.*86dup
XM_017021218.1:c.*309dup	XP_016876707.1:n.*309dup
NM_000161.3:c.*309dup MANE Select	NP_000152.1:n.*309dup
NM_001024070.2:c.*12+74dup	NP_001019241.1:n.*12+74dup
NM_001024071.2:c.627-654dup	NP_001019242.1:n.627-654dup
NM_001024024.2:c.*16+293dup	NP_001019195.1:n.*16+293dup