Canonical Allele Identifier: CA1132412303

Gene: OTC

Linked Data

• dbSNP Id: rs2068300101
• gnomAD v3: X-38367173-T-TA
• gnomAD v4: X-38367173-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38367173_38367174insA , CM000685.2:g.38367173_38367174insA	GRCh38
NC_000023.10:g.38226426_38226427insA , CM000685.1:g.38226426_38226427insA	GRCh37
NC_000023.9:g.38111370_38111371insA	NCBI36
NG_008471.1:g.19691_19692insA

Transcript Alleles

HGVS	Amino-acid change
ENST00000039007.5:c.78-118_78-117insA MANE Select	ENSP00000039007.4:n.78-118_78-117insA
ENST00000643344.1:c.78-118_78-117insA	ENSP00000496606.1:n.78-118_78-117insA
ENST00000039007.4:c.78-118_78-117insA	ENSP00000039007.4:n.78-118_78-117insA
ENST00000465127.1:c.172-298948_172-298947insA	ENSP00000417050.1:n.172-298948_172-298947...
ENST00000488812.1:n.170-118_170-117insA
NM_000531.5:c.78-118_78-117insA	NP_000522.3:n.78-118_78-117insA
XM_017029556.1:c.78-118_78-117insA	XP_016885045.1:n.78-118_78-117insA
NM_000531.6:c.78-118_78-117insA MANE Select	NP_000522.3:n.78-118_78-117insA