Canonical Allele Identifier: CA10385838
Gene: OTC HGNC NCBI

Linked Data

dbSNP Id: rs370469538
ExAC: X:38240591 G / T
gnomAD v2: X-38240591-G-T
gnomAD v3: X-38381338-G-T
gnomAD v4: X-38381338-G-T
COSMIC: COSM5765222
MyVariant Identifiers: chrX:g.38240591G>T (hg19) chrX:g.38381338G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38381338G>T , CM000685.2:g.38381338G>T GRCh38
NC_000023.10:g.38240591G>T , CM000685.1:g.38240591G>T GRCh37
NC_000023.9:g.38125535G>T NCBI36
NG_008471.1:g.33856G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.299-4G>T MANE Select ENSP00000039007.4:n.299-4G>T
ENST00000643344.1:c.*49-4G>T ENSP00000496606.1:n.*49-4G>T
ENST00000039007.4:c.299-4G>T ENSP00000039007.4:n.299-4G>T
ENST00000465127.1:c.172-284783G>T ENSP00000417050.1:n.172-284783G>T
ENST00000488812.1:n.354-22G>T
NM_000531.5:c.299-4G>T NP_000522.3:n.299-4G>T
XM_017029556.1:c.299-4G>T XP_016885045.1:n.299-4G>T
NM_000531.6:c.299-4G>T MANE Select NP_000522.3:n.299-4G>T
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