Canonical Allele Identifier: CA2693442251
Gene: OTC HGNC NCBI

Linked Data

gnomAD v4: X-38367458-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38367458T>C , CM000685.2:g.38367458T>C GRCh38
NC_000023.10:g.38226711T>C , CM000685.1:g.38226711T>C GRCh37
NC_000023.9:g.38111655T>C NCBI36
NG_008471.1:g.19976T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.216+29T>C MANE Select ENSP00000039007.4:n.216+29T>C
ENST00000643344.1:c.216+29T>C ENSP00000496606.1:n.216+29T>C
ENST00000039007.4:c.216+29T>C ENSP00000039007.4:n.216+29T>C
ENST00000465127.1:c.172-298663T>C ENSP00000417050.1:n.172-298663T>C
ENST00000488812.1:n.308+29T>C
NM_000531.5:c.216+29T>C NP_000522.3:n.216+29T>C
XM_017029556.1:c.216+29T>C XP_016885045.1:n.216+29T>C
NM_000531.6:c.216+29T>C MANE Select NP_000522.3:n.216+29T>C
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