Canonical Allele Identifier: CA2175373705
Gene: SLC24A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48134297T= , CM000677.2:g.48134297T= GRCh38
NC_000015.9:g.48426494T= , CM000677.1:g.48426494T= GRCh37
NC_000015.8:g.46213786T= NCBI36
NG_011500.1:g.18326T=

Transcript Alleles

HGVS Amino-acid change
ENST00000341459.8:c.341T= MANE Select ENSP00000341550.3:p.Met114=
ENST00000341459.7:c.341T= ENSP00000341550.3:p.Met114=
ENST00000449382.2:c.161T= ENSP00000389966.2:p.Met54=
ENST00000463289.1:n.101T=
NM_205850.2:c.341T= NP_995322.1:p.Met114=
XM_011521458.1:c.341T= XP_011519760.1:p.Met114=
XM_017022079.1:c.2T= XP_016877568.1:p.Met1=
XM_017022080.1:c.2T= XP_016877569.1:p.Met1=
XM_024449901.1:c.2T= XP_024305669.1:p.Met1=
NM_205850.3:c.341T= MANE Select NP_995322.1:p.Met114=