Canonical Allele Identifier: CA2624944704
Gene: GCH1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.54844143_54844144insGTTGCTTCAACCA , CM000676.2:g.54844143_54844144insGTTGCTTCAACCA GRCh38
NC_000014.8:g.55310861_55310862insGTTGCTTCAACCA , CM000676.1:g.55310861_55310862insGTTGCTTCAACCA GRCh37
NC_000014.7:g.54380611_54380612insGTTGCTTCAACCA NCBI36
NG_008647.1:g.63681_63682insTGGTTGAAGCAAC

Transcript Alleles

HGVS Amino-acid change
ENST00000491895.7:c.627-1_627insTGGTTGAAGCAAC MANE Select ENSP00000419045.2:n.627-1_627insTGGTTGAAG...
ENST00000254299.8:n.775-1_775insTGGTTGAAGCAAC
ENST00000395514.5:c.627-1_627insTGGTTGAAGCAAC ENSP00000378890.1:n.627-1_627insTGGTTGAAG...
ENST00000395521.6:n.293-1090_293-1089insTGGTTGAAGCAAC
ENST00000491895.6:c.627-1_627insTGGTTGAAGCAAC ENSP00000419045.2:n.627-1_627insTGGTTGAAG...
ENST00000536224.2:c.627-1090_627-1089insTGGTTGAAGCAAC ENSP00000445246.2:n.627-1090_627-1089insT...
ENST00000543643.6:c.627-275_627-274insTGGTTGAAGCAAC ENSP00000444011.2:n.627-275_627-274insTGG...
ENST00000622544.4:c.627-1_627insTGGTTGAAGCAAC ENSP00000477796.1:n.627-1_627insTGGTTGAAG...
NM_000161.2:c.627-1_627insTGGTTGAAGCAAC NP_000152.1:n.627-1_627insTGGTTGAAGCAAC
NM_001024024.1:c.627-1_627insTGGTTGAAGCAAC NP_001019195.1:n.627-1_627insTGGTTGAAGCAA...
NM_001024070.1:c.627-275_627-274insTGGTTGAAGCAAC NP_001019241.1:n.627-275_627-274insTGGTTG...
NM_001024071.1:c.627-1090_627-1089insTGGTTGAAGCAAC NP_001019242.1:n.627-1090_627-1089insTGGT...
XM_005267530.1:c.627-275_627-274insTGGTTGAAGCAAC XP_005267587.1:n.627-275_627-274insTGGTTG...
XM_017021218.1:c.333-1_333insTGGTTGAAGCAAC XP_016876707.1:n.333-1_333insTGGTTGAAGCAA...
NM_000161.3:c.627-1_627insTGGTTGAAGCAAC MANE Select NP_000152.1:n.627-1_627insTGGTTGAAGCAAC
NM_001024070.2:c.627-275_627-274insTGGTTGAAGCAAC NP_001019241.1:n.627-275_627-274insTGGTTG...
NM_001024071.2:c.627-1090_627-1089insTGGTTGAAGCAAC NP_001019242.1:n.627-1090_627-1089insTGGT...
NM_001024024.2:c.627-1_627insTGGTTGAAGCAAC NP_001019195.1:n.627-1_627insTGGTTGAAGCAA...