Canonical Allele Identifier: CA2366499521
Gene: SLC12A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.46056248C= , CM000682.2:g.46056248C= GRCh38
NC_000020.10:g.44684887C= , CM000682.1:g.44684887C= GRCh37
NC_000020.9:g.44118294C= NCBI36
NG_046341.1:g.39559C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000243964.7:c.2886C= MANE Select ENSP00000243964.4:p.Asp962=
ENST00000243964.6:c.2886C= ENSP00000243964.3:p.Asp962=
ENST00000454036.6:c.2955C= ENSP00000387694.1:p.Asp985=
ENST00000616201.4:c.1298-2408C= ENSP00000484585.1:n.1298-2408C=
ENST00000616202.4:c.613-2233C= ENSP00000478369.1:n.613-2233C=
ENST00000616933.4:c.*2204C= ENSP00000477569.1:n.*2204C=
ENST00000626937.2:c.510-3351C= ENSP00000485953.1:n.510-3351C=
ENST00000628413.1:n.402C=
NM_001134771.1:c.2955C= NP_001128243.1:p.Asp985=
NM_020708.4:c.2886C= NP_065759.1:p.Asp962=
XM_017027981.1:c.2955C= XP_016883470.1:p.Asp985=
NM_001134771.2:c.2955C= NP_001128243.1:p.Asp985=
NM_020708.5:c.2886C= MANE Select NP_065759.1:p.Asp962=