Canonical Allele Identifier: CA9887780
Gene: SLC12A5 HGNC NCBI

Linked Data

dbSNP Id: rs779136827

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.46056549T>C , CM000682.2:g.46056549T>C GRCh38
NC_000020.10:g.44685188T>C , CM000682.1:g.44685188T>C GRCh37
NC_000020.9:g.44118595T>C NCBI36
NG_046341.1:g.39860T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000243964.7:c.3095T>C MANE Select ENSP00000243964.4:p.Phe1032Ser
ENST00000243964.6:c.3095T>C ENSP00000243964.3:p.Phe1032Ser
ENST00000454036.6:c.3164T>C ENSP00000387694.1:p.Phe1055Ser
ENST00000616201.4:c.1298-2107T>C ENSP00000484585.1:n.1298-2107T>C
ENST00000616202.4:c.613-1932T>C ENSP00000478369.1:n.613-1932T>C
ENST00000616933.4:c.*2413T>C ENSP00000477569.1:n.*2413T>C
ENST00000626937.2:c.510-3050T>C ENSP00000485953.1:n.510-3050T>C
NM_001134771.1:c.3164T>C NP_001128243.1:p.Phe1055Ser
NM_020708.4:c.3095T>C NP_065759.1:p.Phe1032Ser
XM_017027981.1:c.3164T>C XP_016883470.1:p.Phe1055Ser
NM_001134771.2:c.3164T>C NP_001128243.1:p.Phe1055Ser
NM_020708.5:c.3095T>C MANE Select NP_065759.1:p.Phe1032Ser