Canonical Allele Identifier: CA2628304218

Gene: SLC24A5

Linked Data

• gnomAD v4: 15-48134291-C-CTT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48134293_48134294dup , CM000677.2:g.48134293_48134294dup	GRCh38
NC_000015.9:g.48426490_48426491dup , CM000677.1:g.48426490_48426491dup	GRCh37
NC_000015.8:g.46213782_46213783dup	NCBI36
NG_011500.1:g.18322_18323dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000341459.8:c.337_338dup MANE Select	ENSP00000341550.3:p.Met114SerfsTer11
ENST00000341459.7:c.337_338dup	ENSP00000341550.3:p.Met114SerfsTer11
ENST00000449382.2:c.157_158dup	ENSP00000389966.2:p.Met54SerfsTer11
ENST00000463289.1:n.97_98dup
NM_205850.2:c.337_338dup	NP_995322.1:p.Met114SerfsTer11
XM_011521458.1:c.337_338dup	XP_011519760.1:p.Met114SerfsTer11
XM_017022079.1:c.-3_-2dup	XP_016877568.1:n.-3_-2dup
XM_017022080.1:c.-3_-2dup	XP_016877569.1:n.-3_-2dup
XM_024449901.1:c.-3_-2dup	XP_024305669.1:n.-3_-2dup
NM_205850.3:c.337_338dup MANE Select	NP_995322.1:p.Met114SerfsTer11