Canonical Allele Identifier: CA10385916
Gene: OTC HGNC NCBI

Linked Data

dbSNP Id: rs373196047
gnomAD v2: X-38268001-G-C
gnomAD v3: X-38408748-G-C
gnomAD v4: X-38408748-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38408748G>C , CM000685.2:g.38408748G>C GRCh38
NC_000023.10:g.38268001G>C , CM000685.1:g.38268001G>C GRCh37
NC_000023.9:g.38152945G>C NCBI36
NG_008471.1:g.61266G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.670G>C MANE Select ENSP00000039007.4:p.Glu224Gln
ENST00000643344.1:c.*420G>C ENSP00000496606.1:n.*420G>C
ENST00000039007.4:c.670G>C ENSP00000039007.4:p.Glu224Gln
ENST00000465127.1:c.172-257373G>C ENSP00000417050.1:n.172-257373G>C
NM_000531.5:c.670G>C NP_000522.3:p.Glu224Gln
XM_017029556.1:c.670G>C XP_016885045.1:p.Glu224Gln
NM_000531.6:c.670G>C MANE Select NP_000522.3:p.Glu224Gln