Canonical Allele Identifier: CA2366499559
Gene: SLC12A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.46056339C= , CM000682.2:g.46056339C= GRCh38
NC_000020.10:g.44684978C= , CM000682.1:g.44684978C= GRCh37
NC_000020.9:g.44118385C= NCBI36
NG_046341.1:g.39650C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000243964.7:c.2911-26C= MANE Select ENSP00000243964.4:n.2911-26C=
ENST00000243964.6:c.2911-26C= ENSP00000243964.3:n.2911-26C=
ENST00000454036.6:c.2980-26C= ENSP00000387694.1:n.2980-26C=
ENST00000616201.4:c.1298-2317C= ENSP00000484585.1:n.1298-2317C=
ENST00000616202.4:c.613-2142C= ENSP00000478369.1:n.613-2142C=
ENST00000616933.4:c.*2229-26C= ENSP00000477569.1:n.*2229-26C=
ENST00000626937.2:c.510-3260C= ENSP00000485953.1:n.510-3260C=
ENST00000628413.1:n.427-26C=
NM_001134771.1:c.2980-26C= NP_001128243.1:n.2980-26C=
NM_020708.4:c.2911-26C= NP_065759.1:n.2911-26C=
XM_017027981.1:c.2980-26C= XP_016883470.1:n.2980-26C=
NM_001134771.2:c.2980-26C= NP_001128243.1:n.2980-26C=
NM_020708.5:c.2911-26C= MANE Select NP_065759.1:n.2911-26C=