Canonical Allele Identifier: CA13946925

Gene: SLC24A4

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.92443208T>C , CM000676.2:g.92443208T>C	GRCh38
NC_000014.8:g.92909552T>C , CM000676.1:g.92909552T>C	GRCh37
NC_000014.7:g.91979305T>C	NCBI36
NG_023408.1:g.125628T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_153646.4:c.583-192T>C MANE Select	NP_705932.2:n.583-192T>C
ENST00000532405.6:c.583-192T>C MANE Select	ENSP00000431840.1:n.583-192T>C
NM_001378620.1:c.583-192T>C	NP_001365549.1:n.583-192T>C
NM_153646.3:c.583-192T>C	NP_705932.2:n.583-192T>C
NM_153647.3:c.583-192T>C	NP_705933.2:n.583-192T>C
NM_153647.4:c.583-192T>C	NP_705933.2:n.583-192T>C
NM_153648.3:c.391-192T>C	NP_705934.1:n.391-192T>C
NM_153648.4:c.391-192T>C	NP_705934.1:n.391-192T>C
ENST00000393265.6:c.391-192T>C	ENSP00000376948.2:n.391-192T>C
ENST00000525557.5:c.236-192T>C
ENST00000531433.5:c.583-192T>C	ENSP00000433302.1:n.583-192T>C
ENST00000532405.5:c.583-192T>C	ENSP00000431840.1:n.583-192T>C
ENST00000676001.1:c.583-192T>C	ENSP00000502715.1:n.583-192T>C
XM_005267342.1:c.186-239T>C	XP_005267399.1:n.186-239T>C
XM_005267342.2:c.186-239T>C	XP_005267399.1:n.186-239T>C
XM_011536436.1:c.724-192T>C	XP_011534738.1:n.724-192T>C
XM_011536436.2:c.724-192T>C	XP_011534738.1:n.724-192T>C
XM_011536437.1:c.724-192T>C	XP_011534739.1:n.724-192T>C
XM_011536437.2:c.724-192T>C	XP_011534739.1:n.724-192T>C
XM_011536438.1:c.724-192T>C	XP_011534740.1:n.724-192T>C
XM_011536438.2:c.724-192T>C	XP_011534740.1:n.724-192T>C
XM_011536439.1:c.724-192T>C	XP_011534741.1:n.724-192T>C
XM_011536439.2:c.724-192T>C	XP_011534741.1:n.724-192T>C
XM_024449478.1:c.583-192T>C	XP_024305246.1:n.583-192T>C