Canonical Allele Identifier: CA6733064
Community Standard Title: NM_002635.4(SLC25A3):c.642-145A>G
Gene: SLC25A3 HGNC NCBI
SNORA53 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.98599810A>G , CM000674.2:g.98599810A>G GRCh38
NC_000012.11:g.98993588A>G , CM000674.1:g.98993588A>G GRCh37
NC_000012.10:g.97517719A>G NCBI36
NG_011702.1:g.11186A>G

Transcript Alleles

HGVS Amino-acid Change
NM_002635.4:c.642-145A>G (SLC25A3) MANE Select NP_002626.1:n.642-145A>G
ENST00000552981.6:c.642-145A>G (SLC25A3) MANE Select ENSP00000448708.2:n.642-145A>G
NM_005888.4:c.645-145A>G (SLC25A3) MANE Plus Clinical NP_005879.1:n.645-145A>G
ENST00000228318.8:c.645-145A>G (SLC25A3) MANE Plus Clinical ENSP00000228318.3:n.645-145A>G
NM_002635.3:c.642-145A>G (SLC25A3) NP_002626.1:n.642-145A>G
NM_005888.3:c.645-145A>G (SLC25A3) NP_005879.1:n.645-145A>G
NM_213611.2:c.642-145A>G (SLC25A3) NP_998776.1:n.642-145A>G
NM_213611.3:c.642-145A>G (SLC25A3) NP_998776.1:n.642-145A>G
NR_003015.1:n.176A>G (SNORA53)
ENST00000188376.9:c.642-145A>G (SLC25A3) ENSP00000188376.5:n.642-145A>G
ENST00000228318.7:c.645-145A>G (SLC25A3) ENSP00000228318.3:n.645-145A>G
ENST00000401722.7:c.642-145A>G (SLC25A3) ENSP00000383898.3:n.642-145A>G
ENST00000546766.5:n.2323-145A>G (SLC25A3)
ENST00000548847.1:c.642-145A>G (SLC25A3) ENSP00000449166.1:n.642-145A>G
ENST00000549338.5:c.642-145A>G (SLC25A3) ENSP00000447740.1:n.642-145A>G
ENST00000551123.5:c.*434-145A>G (SLC25A3) ENSP00000449009.1:n.*434-145A>G
ENST00000551917.5:c.645-145A>G (SLC25A3) ENSP00000447310.1:n.645-145A>G
ENST00000552981.5:c.642-145A>G (SLC25A3) ENSP00000448708.1:n.642-145A>G