Canonical Allele Identifier: CA260543398

Gene: GCH1

Linked Data

• dbSNP Id: rs762949605
• gnomAD v2: 14-55311564-GAAATCAAGAGAAGACATA-G
• gnomAD v3: 14-54844846-GAAATCAAGAGAAGACATA-G
• gnomAD v4: 14-54844846-GAAATCAAGAGAAGACATA-G
• MyVariant Identifiers: chr14:g.55311565_55311582del (hg19) ; chr14:g.54844847_54844864del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.54844868_54844885del , CM000676.2:g.54844868_54844885del	GRCh38
NC_000014.8:g.55311586_55311603del , CM000676.1:g.55311586_55311603del	GRCh37
NC_000014.7:g.54381336_54381353del	NCBI36
NG_008647.1:g.62961_62978del

Transcript Alleles

HGVS	Amino-acid change
ENST00000491895.7:c.627-721_627-704del MANE Select	ENSP00000419045.2:n.627-721_627-704del
ENST00000254299.8:n.775-721_775-704del
ENST00000395514.5:c.627-721_627-704del	ENSP00000378890.1:n.627-721_627-704del
ENST00000395521.6:n.293-1810_293-1793del
ENST00000491895.6:c.627-721_627-704del	ENSP00000419045.2:n.627-721_627-704del
ENST00000536224.2:c.626+904_626+921del	ENSP00000445246.2:n.626+904_626+921del
ENST00000543643.6:c.626+904_626+921del	ENSP00000444011.2:n.626+904_626+921del
ENST00000622544.4:c.627-721_627-704del	ENSP00000477796.1:n.627-721_627-704del
NM_000161.2:c.627-721_627-704del	NP_000152.1:n.627-721_627-704del
NM_001024024.1:c.627-721_627-704del	NP_001019195.1:n.627-721_627-704del
NM_001024070.1:c.626+904_626+921del	NP_001019241.1:n.626+904_626+921del
NM_001024071.1:c.626+904_626+921del	NP_001019242.1:n.626+904_626+921del
XM_005267530.1:c.626+904_626+921del	XP_005267587.1:n.626+904_626+921del
XM_017021218.1:c.333-721_333-704del	XP_016876707.1:n.333-721_333-704del
NM_000161.3:c.627-721_627-704del MANE Select	NP_000152.1:n.627-721_627-704del
NM_001024070.2:c.626+904_626+921del	NP_001019241.1:n.626+904_626+921del
NM_001024071.2:c.626+904_626+921del	NP_001019242.1:n.626+904_626+921del
NM_001024024.2:c.627-721_627-704del	NP_001019195.1:n.627-721_627-704del