Canonical Allele Identifier: CA490090368
Gene: SLC24A5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.48426504C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48134307C>A , CM000677.2:g.48134307C>A GRCh38
NC_000015.9:g.48426504C>A , CM000677.1:g.48426504C>A GRCh37
NC_000015.8:g.46213796C>A NCBI36
NG_011500.1:g.18336C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000341459.8:c.351C>A MANE Select ENSP00000341550.3:p.Gly117=
ENST00000341459.7:c.351C>A ENSP00000341550.3:p.Gly117=
ENST00000449382.2:c.171C>A ENSP00000389966.2:p.Gly57=
ENST00000463289.1:n.111C>A
NM_205850.2:c.351C>A NP_995322.1:p.Gly117=
XM_011521458.1:c.351C>A XP_011519760.1:p.Gly117=
XM_017022079.1:c.12C>A XP_016877568.1:p.Gly4=
XM_017022080.1:c.12C>A XP_016877569.1:p.Gly4=
XM_024449901.1:c.12C>A XP_024305669.1:p.Gly4=
NM_205850.3:c.351C>A MANE Select NP_995322.1:p.Gly117=