Canonical Allele Identifier: CA117772746

Gene: OXCT1

Linked Data

• dbSNP Id: rs993643350
• gnomAD v2: 5-41862683-G-T
• gnomAD v3: 5-41862581-G-T
• gnomAD v4: 5-41862581-G-T
• MyVariant Identifiers: chr5:g.41862683G>T (hg19) ; chr5:g.41862581G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.41862581G>T , CM000667.2:g.41862581G>T	GRCh38
NC_000005.9:g.41862683G>T , CM000667.1:g.41862683G>T	GRCh37
NC_000005.8:g.41898440G>T	NCBI36
NG_011823.1:g.13109C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000196371.10:c.187+61C>A MANE Select	ENSP00000196371.5:n.187+61C>A
ENST00000196371.9:c.187+61C>A	ENSP00000196371.5:n.187+61C>A
NM_000436.3:c.187+61C>A	NP_000427.1:n.187+61C>A
XR_427658.2:n.363+61C>A
NM_001364299.1:c.187+61C>A	NP_001351228.1:n.187+61C>A
NM_001364300.1:c.208+61C>A	NP_001351229.1:n.208+61C>A
NM_001364301.1:c.187+61C>A	NP_001351230.1:n.187+61C>A
NM_001364302.1:c.187+61C>A	NP_001351231.1:n.187+61C>A
NR_157114.1:n.254+61C>A
XR_001742081.2:n.364+61C>A
NM_000436.4:c.187+61C>A MANE Select	NP_000427.1:n.187+61C>A
NM_001364299.2:c.187+61C>A	NP_001351228.1:n.187+61C>A
NM_001364300.2:c.208+61C>A	NP_001351229.1:n.208+61C>A
NM_001364301.2:c.187+61C>A	NP_001351230.1:n.187+61C>A
NM_001364302.2:c.187+61C>A	NP_001351231.1:n.187+61C>A
NR_157114.2:n.254+61C>A