Canonical Allele Identifier: CA2175373558
Gene: SLC24A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48134240C= , CM000677.2:g.48134240C= GRCh38
NC_000015.9:g.48426437C= , CM000677.1:g.48426437C= GRCh37
NC_000015.8:g.46213729C= NCBI36
NG_011500.1:g.18269C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000341459.8:c.302-18C= MANE Select ENSP00000341550.3:n.302-18C=
ENST00000341459.7:c.302-18C= ENSP00000341550.3:n.302-18C=
ENST00000449382.2:c.122-18C= ENSP00000389966.2:n.122-18C=
ENST00000463289.1:n.62-18C=
NM_205850.2:c.302-18C= NP_995322.1:n.302-18C=
XM_011521458.1:c.302-18C= XP_011519760.1:n.302-18C=
XM_017022079.1:c.-38-18C= XP_016877568.1:n.-38-18C=
XM_017022080.1:c.-38-18C= XP_016877569.1:n.-38-18C=
XM_024449901.1:c.-38-18C= XP_024305669.1:n.-38-18C=
NM_205850.3:c.302-18C= MANE Select NP_995322.1:n.302-18C=