Canonical Allele Identifier: CA7193461

Gene: GCH1

Linked Data

• dbSNP Id: rs759438677
• ExAC: 14:55310481 G / GT
• gnomAD v2: 14-55310481-G-GT
• MyVariant Identifiers: chr14:g.55310481_55310482insT (hg19) ; chr14:g.54843763_54843764insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.54843767dup , CM000676.2:g.54843767dup	GRCh38
NC_000014.8:g.55310485dup , CM000676.1:g.55310485dup	GRCh37
NC_000014.7:g.54380235dup	NCBI36
NG_008647.1:g.64061dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000491895.7:c.*253dup MANE Select	ENSP00000419045.2:n.*253dup
ENST00000254299.8:n.1154dup
ENST00000395514.5:c.*16+237dup	ENSP00000378890.1:n.*16+237dup
ENST00000395521.6:n.293-710dup
ENST00000491895.6:c.*253dup	ENSP00000419045.2:n.*253dup
ENST00000536224.2:c.627-710dup	ENSP00000445246.2:n.627-710dup
ENST00000543643.6:c.*12+18dup	ENSP00000444011.2:n.*12+18dup
ENST00000622544.4:c.*253dup	ENSP00000477796.1:n.*253dup
NM_000161.2:c.*253dup	NP_000152.1:n.*253dup
NM_001024024.1:c.*16+237dup	NP_001019195.1:n.*16+237dup
NM_001024070.1:c.*12+18dup	NP_001019241.1:n.*12+18dup
NM_001024071.1:c.627-710dup	NP_001019242.1:n.627-710dup
XM_005267530.1:c.*30dup	XP_005267587.1:n.*30dup
XM_017021218.1:c.*253dup	XP_016876707.1:n.*253dup
NM_000161.3:c.*253dup MANE Select	NP_000152.1:n.*253dup
NM_001024070.2:c.*12+18dup	NP_001019241.1:n.*12+18dup
NM_001024071.2:c.627-710dup	NP_001019242.1:n.627-710dup
NM_001024024.2:c.*16+237dup	NP_001019195.1:n.*16+237dup