Canonical Allele Identifier: CA2628304794

Gene: SLC24A5

Linked Data

• gnomAD v4: 15-48134172-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48134172T>C , CM000677.2:g.48134172T>C	GRCh38
NC_000015.9:g.48426369T>C , CM000677.1:g.48426369T>C	GRCh37
NC_000015.8:g.46213661T>C	NCBI36
NG_011500.1:g.18201T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341459.8:c.302-86T>C MANE Select	ENSP00000341550.3:n.302-86T>C
ENST00000341459.7:c.302-86T>C	ENSP00000341550.3:n.302-86T>C
ENST00000449382.2:c.122-86T>C	ENSP00000389966.2:n.122-86T>C
ENST00000463289.1:n.62-86T>C
NM_205850.2:c.302-86T>C	NP_995322.1:n.302-86T>C
XM_011521458.1:c.302-86T>C	XP_011519760.1:n.302-86T>C
XM_017022079.1:c.-38-86T>C	XP_016877568.1:n.-38-86T>C
XM_017022080.1:c.-38-86T>C	XP_016877569.1:n.-38-86T>C
XM_024449901.1:c.-38-86T>C	XP_024305669.1:n.-38-86T>C
NM_205850.3:c.302-86T>C MANE Select	NP_995322.1:n.302-86T>C