Canonical Allele Identifier: CA269988589

Gene: SLC24A5

Linked Data

• dbSNP Id: rs958613197
• gnomAD v4: 15-48134131-G-C
• MyVariant Identifiers: chr15:g.48426328G>C (hg19) ; chr15:g.48134131G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48134131G>C , CM000677.2:g.48134131G>C	GRCh38
NC_000015.9:g.48426328G>C , CM000677.1:g.48426328G>C	GRCh37
NC_000015.8:g.46213620G>C	NCBI36
NG_011500.1:g.18160G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000341459.8:c.302-127G>C MANE Select	ENSP00000341550.3:n.302-127G>C
ENST00000341459.7:c.302-127G>C	ENSP00000341550.3:n.302-127G>C
ENST00000449382.2:c.122-127G>C	ENSP00000389966.2:n.122-127G>C
ENST00000463289.1:n.62-127G>C
NM_205850.2:c.302-127G>C	NP_995322.1:n.302-127G>C
XM_011521458.1:c.302-127G>C	XP_011519760.1:n.302-127G>C
XM_017022079.1:c.-38-127G>C	XP_016877568.1:n.-38-127G>C
XM_017022080.1:c.-38-127G>C	XP_016877569.1:n.-38-127G>C
XM_024449901.1:c.-38-127G>C	XP_024305669.1:n.-38-127G>C
NM_205850.3:c.302-127G>C MANE Select	NP_995322.1:n.302-127G>C