Canonical Allele Identifier: CA2175367329
Community Standard Title: NM_205850.3(SLC24A5):c.301+5153C=
Gene: SLC24A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48127189C= , CM000677.2:g.48127189C= GRCh38
NC_000015.9:g.48419386C= , CM000677.1:g.48419386C= GRCh37
NC_000015.8:g.46206678C= NCBI36
NG_011500.1:g.11218C=

Transcript Alleles

HGVS Amino-acid Change
NM_205850.3:c.301+5153C= MANE Select NP_995322.1:n.301+5153C=
ENST00000341459.8:c.301+5153C= MANE Select ENSP00000341550.3:n.301+5153C=
NM_205850.2:c.301+5153C= NP_995322.1:n.301+5153C=
ENST00000341459.7:c.301+5153C= ENSP00000341550.3:n.301+5153C=
ENST00000449382.2:c.121+6024C= ENSP00000389966.2:n.121+6024C=
ENST00000463289.1:n.61+5153C=
XM_011521458.1:c.301+5153C= XP_011519760.1:n.301+5153C=
XM_017022079.1:c.-263C= XP_016877568.1:n.-263C=
XM_017022080.1:c.-347C= XP_016877569.1:n.-347C=
XM_024449901.1:c.-263C= XP_024305669.1:n.-263C=