Canonical Allele Identifier: CA409207954
Gene: SLC12A5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.46056494G>C , CM000682.2:g.46056494G>C GRCh38
NC_000020.10:g.44685133G>C , CM000682.1:g.44685133G>C GRCh37
NC_000020.9:g.44118540G>C NCBI36
NG_046341.1:g.39805G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000243964.7:c.3040G>C MANE Select ENSP00000243964.4:p.Val1014Leu
ENST00000243964.6:c.3040G>C ENSP00000243964.3:p.Val1014Leu
ENST00000454036.6:c.3109G>C ENSP00000387694.1:p.Val1037Leu
ENST00000616201.4:c.1298-2162G>C ENSP00000484585.1:n.1298-2162G>C
ENST00000616202.4:c.613-1987G>C ENSP00000478369.1:n.613-1987G>C
ENST00000616933.4:c.*2358G>C ENSP00000477569.1:n.*2358G>C
ENST00000626937.2:c.510-3105G>C ENSP00000485953.1:n.510-3105G>C
ENST00000628413.1:n.556G>C
NM_001134771.1:c.3109G>C NP_001128243.1:p.Val1037Leu
NM_020708.4:c.3040G>C NP_065759.1:p.Val1014Leu
XM_017027981.1:c.3109G>C XP_016883470.1:p.Val1037Leu
NM_001134771.2:c.3109G>C NP_001128243.1:p.Val1037Leu
NM_020708.5:c.3040G>C MANE Select NP_065759.1:p.Val1014Leu