Canonical Allele Identifier: CA2693443564
Gene: OTC HGNC NCBI

Linked Data

gnomAD v4: X-38381299-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38381299G>T , CM000685.2:g.38381299G>T GRCh38
NC_000023.10:g.38240552G>T , CM000685.1:g.38240552G>T GRCh37
NC_000023.9:g.38125496G>T NCBI36
NG_008471.1:g.33817G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.299-43G>T MANE Select ENSP00000039007.4:n.299-43G>T
ENST00000643344.1:c.*49-43G>T ENSP00000496606.1:n.*49-43G>T
ENST00000039007.4:c.299-43G>T ENSP00000039007.4:n.299-43G>T
ENST00000465127.1:c.172-284822G>T ENSP00000417050.1:n.172-284822G>T
ENST00000488812.1:n.354-61G>T
NM_000531.5:c.299-43G>T NP_000522.3:n.299-43G>T
XM_017029556.1:c.299-43G>T XP_016885045.1:n.299-43G>T
NM_000531.6:c.299-43G>T MANE Select NP_000522.3:n.299-43G>T
Search 100 bp 5'
Search 100 bp 3'