Canonical Allele Identifier: CA359627905

Gene: OXCT1

Linked Data

• MyVariant Identifiers: chr5:g.41862742A>C (hg19) ; chr5:g.41862640A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.41862640A>C , CM000667.2:g.41862640A>C	GRCh38
NC_000005.9:g.41862742A>C , CM000667.1:g.41862742A>C	GRCh37
NC_000005.8:g.41898499A>C	NCBI36
NG_011823.1:g.13050T>G

Transcript Alleles

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