Canonical Allele Identifier: CA640867360
Gene: OTC HGNC NCBI

Linked Data

dbSNP Id: rs1332467142
gnomAD v2: X-38262729-T-G
MyVariant Identifiers: chrX:g.38262729T>G (hg19) chrX:g.38403476T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38403476T>G , CM000685.2:g.38403476T>G GRCh38
NC_000023.10:g.38262729T>G , CM000685.1:g.38262729T>G GRCh37
NC_000023.9:g.38147673T>G NCBI36
NG_008471.1:g.55994T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.541-142T>G MANE Select ENSP00000039007.4:n.541-142T>G
ENST00000643344.1:c.*291-142T>G ENSP00000496606.1:n.*291-142T>G
ENST00000039007.4:c.541-142T>G ENSP00000039007.4:n.541-142T>G
ENST00000465127.1:c.172-262645T>G ENSP00000417050.1:n.172-262645T>G
ENST00000488812.1:n.578-142T>G
NM_000531.5:c.541-142T>G NP_000522.3:n.541-142T>G
XM_017029556.1:c.541-142T>G XP_016885045.1:n.541-142T>G
NM_000531.6:c.541-142T>G MANE Select NP_000522.3:n.541-142T>G
Search 100 bp 5'
Search 100 bp 3'