Canonical Allele Identifier: CA392449706

Gene: SLC24A5

Linked Data

• dbSNP Id: rs1477159019
• gnomAD v2: 15-48426488-C-T
• gnomAD v4: 15-48134291-C-T
• MyVariant Identifiers: chr15:g.48426488C>T (hg19) ; chr15:g.48134291C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48134291C>T , CM000677.2:g.48134291C>T	GRCh38
NC_000015.9:g.48426488C>T , CM000677.1:g.48426488C>T	GRCh37
NC_000015.8:g.46213780C>T	NCBI36
NG_011500.1:g.18320C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000341459.8:c.335C>T MANE Select	ENSP00000341550.3:p.Thr112Ile
ENST00000341459.7:c.335C>T	ENSP00000341550.3:p.Thr112Ile
ENST00000449382.2:c.155C>T	ENSP00000389966.2:p.Thr52Ile
ENST00000463289.1:n.95C>T
NM_205850.2:c.335C>T	NP_995322.1:p.Thr112Ile
XM_011521458.1:c.335C>T	XP_011519760.1:p.Thr112Ile
XM_017022079.1:c.-5C>T	XP_016877568.1:n.-5C>T
XM_017022080.1:c.-5C>T	XP_016877569.1:n.-5C>T
XM_024449901.1:c.-5C>T	XP_024305669.1:n.-5C>T
NM_205850.3:c.335C>T MANE Select	NP_995322.1:p.Thr112Ile