Canonical Allele Identifier: CA412718220

Gene: OTC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38381347G>C , CM000685.2:g.38381347G>C	GRCh38
NC_000023.10:g.38240600G>C , CM000685.1:g.38240600G>C	GRCh37
NC_000023.9:g.38125544G>C	NCBI36
NG_008471.1:g.33865G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000531.6:c.304G>C MANE Select	NP_000522.3:p.Ala102Pro
ENST00000039007.5:c.304G>C MANE Select	ENSP00000039007.4:p.Ala102Pro
NM_000531.5:c.304G>C	NP_000522.3:p.Ala102Pro
ENST00000039007.4:c.304G>C	ENSP00000039007.4:p.Ala102Pro
ENST00000465127.1:c.172-284774G>C	ENSP00000417050.1:n.172-284774G>C
ENST00000488812.1:n.354-13G>C
ENST00000643344.1:c.*54G>C	ENSP00000496606.1:n.*54G>C
XM_017029556.1:c.304G>C	XP_016885045.1:p.Ala102Pro