Canonical Allele Identifier: CA3253681

Gene: OXCT1

Linked Data

• dbSNP Id: rs750020308
• ExAC: 5:41862720 C / CA
• gnomAD v2: 5-41862720-C-CA
• gnomAD v3: 5-41862618-C-CA
• gnomAD v4: 5-41862618-C-CA
• MyVariant Identifiers: chr5:g.41862720_41862721insA (hg19) ; chr5:g.41862618_41862619insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.41862619dup , CM000667.2:g.41862619dup	GRCh38
NC_000005.9:g.41862721dup , CM000667.1:g.41862721dup	GRCh37
NC_000005.8:g.41898478dup	NCBI36
NG_011823.1:g.13071dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000196371.10:c.187+23dup MANE Select	ENSP00000196371.5:n.187+23dup
ENST00000196371.9:c.187+23dup	ENSP00000196371.5:n.187+23dup
NM_000436.3:c.187+23dup	NP_000427.1:n.187+23dup
XR_427658.2:n.363+23dup
NM_001364299.1:c.187+23dup	NP_001351228.1:n.187+23dup
NM_001364300.1:c.208+23dup	NP_001351229.1:n.208+23dup
NM_001364301.1:c.187+23dup	NP_001351230.1:n.187+23dup
NM_001364302.1:c.187+23dup	NP_001351231.1:n.187+23dup
NR_157114.1:n.254+23dup
XR_001742081.2:n.364+23dup
NM_000436.4:c.187+23dup MANE Select	NP_000427.1:n.187+23dup
NM_001364299.2:c.187+23dup	NP_001351228.1:n.187+23dup
NM_001364300.2:c.208+23dup	NP_001351229.1:n.208+23dup
NM_001364301.2:c.187+23dup	NP_001351230.1:n.187+23dup
NM_001364302.2:c.187+23dup	NP_001351231.1:n.187+23dup
NR_157114.2:n.254+23dup