Canonical Allele Identifier: CA2138233820
Gene: GCH1 HGNC NCBI

Linked Data

dbSNP Id: rs117283390

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.54877218T>C , CM000676.2:g.54877218T>C GRCh38
NC_000014.8:g.55343936T>C , CM000676.1:g.55343936T>C GRCh37
NC_000014.7:g.54413686T>C NCBI36
NG_008647.1:g.30607A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000491895.7:c.344-11782A>G MANE Select ENSP00000419045.2:n.344-11782A>G
ENST00000254299.8:n.492-11782A>G
ENST00000395514.5:c.344-11782A>G ENSP00000378890.1:n.344-11782A>G
ENST00000395521.6:n.127-11782A>G
ENST00000491895.6:c.344-11782A>G ENSP00000419045.2:n.344-11782A>G
ENST00000536224.2:c.344-11782A>G ENSP00000445246.2:n.344-11782A>G
ENST00000543643.6:c.344-11782A>G ENSP00000444011.2:n.344-11782A>G
ENST00000622544.4:c.344-11782A>G ENSP00000477796.1:n.344-11782A>G
NM_000161.2:c.344-11782A>G NP_000152.1:n.344-11782A>G
NM_001024024.1:c.344-11782A>G NP_001019195.1:n.344-11782A>G
NM_001024070.1:c.344-11782A>G NP_001019241.1:n.344-11782A>G
NM_001024071.1:c.344-11782A>G NP_001019242.1:n.344-11782A>G
XM_005267530.1:c.344-11782A>G XP_005267587.1:n.344-11782A>G
XM_011536643.1:c.344-11782A>G XP_011534945.1:n.344-11782A>G
XM_017021218.1:c.49+4324A>G XP_016876707.1:n.49+4324A>G
NM_000161.3:c.344-11782A>G MANE Select NP_000152.1:n.344-11782A>G
NM_001024070.2:c.344-11782A>G NP_001019241.1:n.344-11782A>G
NM_001024071.2:c.344-11782A>G NP_001019242.1:n.344-11782A>G
NM_001024024.2:c.344-11782A>G NP_001019195.1:n.344-11782A>G