Canonical Allele Identifier: CA269988794

Gene: SLC24A5

Linked Data

• dbSNP Id: rs79561033
• MyVariant Identifiers: chr15:g.48426504C>G (hg19) ; chr15:g.48134307C>G (hg38)

Genomic Alleles

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

Transcript Alleles

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