Canonical Allele Identifier: CA614287589
Gene: GCH1 HGNC NCBI

Linked Data

dbSNP Id: rs1219891910

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.54877249del , CM000676.2:g.54877249del GRCh38
NC_000014.8:g.55343967del , CM000676.1:g.55343967del GRCh37
NC_000014.7:g.54413717del NCBI36
NG_008647.1:g.30578del

Transcript Alleles

HGVS Amino-acid change
ENST00000491895.7:c.344-11811del MANE Select ENSP00000419045.2:n.344-11811del
ENST00000254299.8:n.492-11811del
ENST00000395514.5:c.344-11811del ENSP00000378890.1:n.344-11811del
ENST00000395521.6:n.127-11811del
ENST00000491895.6:c.344-11811del ENSP00000419045.2:n.344-11811del
ENST00000536224.2:c.344-11811del ENSP00000445246.2:n.344-11811del
ENST00000543643.6:c.344-11811del ENSP00000444011.2:n.344-11811del
ENST00000622544.4:c.344-11811del ENSP00000477796.1:n.344-11811del
NM_000161.2:c.344-11811del NP_000152.1:n.344-11811del
NM_001024024.1:c.344-11811del NP_001019195.1:n.344-11811del
NM_001024070.1:c.344-11811del NP_001019241.1:n.344-11811del
NM_001024071.1:c.344-11811del NP_001019242.1:n.344-11811del
XM_005267530.1:c.344-11811del XP_005267587.1:n.344-11811del
XM_011536643.1:c.344-11811del XP_011534945.1:n.344-11811del
XM_017021218.1:c.49+4295del XP_016876707.1:n.49+4295del
NM_000161.3:c.344-11811del MANE Select NP_000152.1:n.344-11811del
NM_001024070.2:c.344-11811del NP_001019241.1:n.344-11811del
NM_001024071.2:c.344-11811del NP_001019242.1:n.344-11811del
NM_001024024.2:c.344-11811del NP_001019195.1:n.344-11811del