Canonical Allele Identifier: CA10588576

Gene: GCH1

Linked Data

• ClinVar Variation Id: 265172
• ClinVar RCV Id: RCV000255434
• dbSNP Id: rs886039378
• MyVariant Identifiers: chr14:g.55312502del (hg19) ; chr14:g.54845784del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.54845787del , CM000676.2:g.54845787del	GRCh38
NC_000014.8:g.55312505del , CM000676.1:g.55312505del	GRCh37
NC_000014.7:g.54382255del	NCBI36
NG_008647.1:g.62041del

Transcript Alleles

HGVS	Amino-acid change
ENST00000491895.7:c.610del MANE Select	ENSP00000419045.2:p.Val204Ter
ENST00000254299.8:n.758del
ENST00000395514.5:c.610del	ENSP00000378890.1:p.Val204Ter
ENST00000395521.6:n.293-2730del
ENST00000491895.6:c.610del	ENSP00000419045.2:p.Val204Ter
ENST00000536224.2:c.610del	ENSP00000445246.2:p.Val204Ter
ENST00000543643.6:c.610del	ENSP00000444011.2:p.Val204Ter
ENST00000622544.4:c.610del	ENSP00000477796.1:p.Val204Ter
NM_000161.2:c.610del	NP_000152.1:p.Val204Ter
NM_001024024.1:c.610del	NP_001019195.1:p.Val204Ter
NM_001024070.1:c.610del	NP_001019241.1:p.Val204Ter
NM_001024071.1:c.610del	NP_001019242.1:p.Val204Ter
XM_005267530.1:c.610del	XP_005267587.1:p.Val204Ter
XM_017021218.1:c.316del	XP_016876707.1:p.Val106Ter
NM_000161.3:c.610del MANE Select	NP_000152.1:p.Val204Ter
NM_001024070.2:c.610del	NP_001019241.1:p.Val204Ter
NM_001024071.2:c.610del	NP_001019242.1:p.Val204Ter
NM_001024024.2:c.610del	NP_001019195.1:p.Val204Ter