Canonical Allele Identifier: CA2575714821
Gene: SLC24A5 HGNC NCBI

Linked Data

gnomAD v4: 15-48134221-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48134221C>A , CM000677.2:g.48134221C>A GRCh38
NC_000015.9:g.48426418C>A , CM000677.1:g.48426418C>A GRCh37
NC_000015.8:g.46213710C>A NCBI36
NG_011500.1:g.18250C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000341459.8:c.302-37C>A MANE Select ENSP00000341550.3:n.302-37C>A
ENST00000341459.7:c.302-37C>A ENSP00000341550.3:n.302-37C>A
ENST00000449382.2:c.122-37C>A ENSP00000389966.2:n.122-37C>A
ENST00000463289.1:n.62-37C>A
NM_205850.2:c.302-37C>A NP_995322.1:n.302-37C>A
XM_011521458.1:c.302-37C>A XP_011519760.1:n.302-37C>A
XM_017022079.1:c.-38-37C>A XP_016877568.1:n.-38-37C>A
XM_017022080.1:c.-38-37C>A XP_016877569.1:n.-38-37C>A
XM_024449901.1:c.-38-37C>A XP_024305669.1:n.-38-37C>A
NM_205850.3:c.302-37C>A MANE Select NP_995322.1:n.302-37C>A
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