Canonical Allele Identifier: CA490090372
Gene: SLC24A5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.48426510A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48134313A>T , CM000677.2:g.48134313A>T GRCh38
NC_000015.9:g.48426510A>T , CM000677.1:g.48426510A>T GRCh37
NC_000015.8:g.46213802A>T NCBI36
NG_011500.1:g.18342A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000341459.8:c.357A>T MANE Select ENSP00000341550.3:p.Ser119=
ENST00000341459.7:c.357A>T ENSP00000341550.3:p.Ser119=
ENST00000449382.2:c.177A>T ENSP00000389966.2:p.Ser59=
ENST00000463289.1:n.117A>T
NM_205850.2:c.357A>T NP_995322.1:p.Ser119=
XM_011521458.1:c.357A>T XP_011519760.1:p.Ser119=
XM_017022079.1:c.18A>T XP_016877568.1:p.Ser6=
XM_017022080.1:c.18A>T XP_016877569.1:p.Ser6=
XM_024449901.1:c.18A>T XP_024305669.1:p.Ser6=
NM_205850.3:c.357A>T MANE Select NP_995322.1:p.Ser119=