Canonical Allele Identifier: CA409208059
Gene: SLC12A5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.46056515C>G , CM000682.2:g.46056515C>G GRCh38
NC_000020.10:g.44685154C>G , CM000682.1:g.44685154C>G GRCh37
NC_000020.9:g.44118561C>G NCBI36
NG_046341.1:g.39826C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000243964.7:c.3061C>G MANE Select ENSP00000243964.4:p.Pro1021Ala
ENST00000243964.6:c.3061C>G ENSP00000243964.3:p.Pro1021Ala
ENST00000454036.6:c.3130C>G ENSP00000387694.1:p.Pro1044Ala
ENST00000616201.4:c.1298-2141C>G ENSP00000484585.1:n.1298-2141C>G
ENST00000616202.4:c.613-1966C>G ENSP00000478369.1:n.613-1966C>G
ENST00000616933.4:c.*2379C>G ENSP00000477569.1:n.*2379C>G
ENST00000626937.2:c.510-3084C>G ENSP00000485953.1:n.510-3084C>G
NM_001134771.1:c.3130C>G NP_001128243.1:p.Pro1044Ala
NM_020708.4:c.3061C>G NP_065759.1:p.Pro1021Ala
XM_017027981.1:c.3130C>G XP_016883470.1:p.Pro1044Ala
NM_001134771.2:c.3130C>G NP_001128243.1:p.Pro1044Ala
NM_020708.5:c.3061C>G MANE Select NP_065759.1:p.Pro1021Ala