Canonical Allele Identifier: CA640863205
Gene: OTC HGNC NCBI

Linked Data

dbSNP Id: rs1274666782
gnomAD v2: X-38226447-G-A
gnomAD v3: X-38367194-G-A
gnomAD v4: X-38367194-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38367194G>A , CM000685.2:g.38367194G>A GRCh38
NC_000023.10:g.38226447G>A , CM000685.1:g.38226447G>A GRCh37
NC_000023.9:g.38111391G>A NCBI36
NG_008471.1:g.19712G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.78-97G>A MANE Select ENSP00000039007.4:n.78-97G>A
ENST00000643344.1:c.78-97G>A ENSP00000496606.1:n.78-97G>A
ENST00000039007.4:c.78-97G>A ENSP00000039007.4:n.78-97G>A
ENST00000465127.1:c.172-298927G>A ENSP00000417050.1:n.172-298927G>A
ENST00000488812.1:n.170-97G>A
NM_000531.5:c.78-97G>A NP_000522.3:n.78-97G>A
XM_017029556.1:c.78-97G>A XP_016885045.1:n.78-97G>A
NM_000531.6:c.78-97G>A MANE Select NP_000522.3:n.78-97G>A