Canonical Allele Identifier: CA412716392

Gene: OTC

Linked Data

• dbSNP Id: rs1244715033
• gnomAD v2: X-38226659-T-C
• MyVariant Identifiers: chrX:g.38226659T>C (hg19) ; chrX:g.38367406T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38367406T>C , CM000685.2:g.38367406T>C	GRCh38
NC_000023.10:g.38226659T>C , CM000685.1:g.38226659T>C	GRCh37
NC_000023.9:g.38111603T>C	NCBI36
NG_008471.1:g.19924T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000039007.5:c.193T>C MANE Select	ENSP00000039007.4:p.Phe65Leu
ENST00000643344.1:c.193T>C	ENSP00000496606.1:p.Phe65Leu
ENST00000039007.4:c.193T>C	ENSP00000039007.4:p.Phe65Leu
ENST00000465127.1:c.172-298715T>C	ENSP00000417050.1:n.172-298715T>C
ENST00000488812.1:n.285T>C
NM_000531.5:c.193T>C	NP_000522.3:p.Phe65Leu
XM_017029556.1:c.193T>C	XP_016885045.1:p.Phe65Leu
NM_000531.6:c.193T>C MANE Select	NP_000522.3:p.Phe65Leu