Canonical Allele Identifier: CA7545831
Gene: SLC24A5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1664189
ClinVar RCV Id: RCV002191005
dbSNP Id: rs768121323
ExAC: 15:48426443 A / G
gnomAD v2: 15-48426443-A-G
gnomAD v4: 15-48134246-A-G
MyVariant Identifiers: chr15:g.48426443A>G (hg19) chr15:g.48134246A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48134246A>G , CM000677.2:g.48134246A>G GRCh38
NC_000015.9:g.48426443A>G , CM000677.1:g.48426443A>G GRCh37
NC_000015.8:g.46213735A>G NCBI36
NG_011500.1:g.18275A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000341459.8:c.302-12A>G MANE Select ENSP00000341550.3:n.302-12A>G
ENST00000341459.7:c.302-12A>G ENSP00000341550.3:n.302-12A>G
ENST00000449382.2:c.122-12A>G ENSP00000389966.2:n.122-12A>G
ENST00000463289.1:n.62-12A>G
NM_205850.2:c.302-12A>G NP_995322.1:n.302-12A>G
XM_011521458.1:c.302-12A>G XP_011519760.1:n.302-12A>G
XM_017022079.1:c.-38-12A>G XP_016877568.1:n.-38-12A>G
XM_017022080.1:c.-38-12A>G XP_016877569.1:n.-38-12A>G
XM_024449901.1:c.-38-12A>G XP_024305669.1:n.-38-12A>G
NM_205850.3:c.302-12A>G MANE Select NP_995322.1:n.302-12A>G
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