Canonical Allele Identifier: CA2804062458
Gene: SLC24A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48134165G>T , CM000677.2:g.48134165G>T GRCh38
NC_000015.9:g.48426362G>T , CM000677.1:g.48426362G>T GRCh37
NC_000015.8:g.46213654G>T NCBI36
NG_011500.1:g.18194G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000341459.8:c.302-93G>T MANE Select ENSP00000341550.3:n.302-93G>T
ENST00000341459.7:c.302-93G>T ENSP00000341550.3:n.302-93G>T
ENST00000449382.2:c.122-93G>T ENSP00000389966.2:n.122-93G>T
ENST00000463289.1:n.62-93G>T
NM_205850.2:c.302-93G>T NP_995322.1:n.302-93G>T
XM_011521458.1:c.302-93G>T XP_011519760.1:n.302-93G>T
XM_017022079.1:c.-38-93G>T XP_016877568.1:n.-38-93G>T
XM_017022080.1:c.-38-93G>T XP_016877569.1:n.-38-93G>T
XM_024449901.1:c.-38-93G>T XP_024305669.1:n.-38-93G>T
NM_205850.3:c.302-93G>T MANE Select NP_995322.1:n.302-93G>T