Canonical Allele Identifier: CA969545784

Gene: SLC24A5

Linked Data

• dbSNP Id: rs2038836319
• gnomAD v3: 15-48134127-C-G
• gnomAD v4: 15-48134127-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48134127C>G , CM000677.2:g.48134127C>G	GRCh38
NC_000015.9:g.48426324C>G , CM000677.1:g.48426324C>G	GRCh37
NC_000015.8:g.46213616C>G	NCBI36
NG_011500.1:g.18156C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341459.8:c.302-131C>G MANE Select	ENSP00000341550.3:n.302-131C>G
ENST00000341459.7:c.302-131C>G	ENSP00000341550.3:n.302-131C>G
ENST00000449382.2:c.122-131C>G	ENSP00000389966.2:n.122-131C>G
ENST00000463289.1:n.62-131C>G
NM_205850.2:c.302-131C>G	NP_995322.1:n.302-131C>G
XM_011521458.1:c.302-131C>G	XP_011519760.1:n.302-131C>G
XM_017022079.1:c.-38-131C>G	XP_016877568.1:n.-38-131C>G
XM_017022080.1:c.-38-131C>G	XP_016877569.1:n.-38-131C>G
XM_024449901.1:c.-38-131C>G	XP_024305669.1:n.-38-131C>G
NM_205850.3:c.302-131C>G MANE Select	NP_995322.1:n.302-131C>G