Canonical Allele Identifier: CA409208218
Gene: SLC12A5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.46056545G>A , CM000682.2:g.46056545G>A GRCh38
NC_000020.10:g.44685184G>A , CM000682.1:g.44685184G>A GRCh37
NC_000020.9:g.44118591G>A NCBI36
NG_046341.1:g.39856G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000243964.7:c.3091G>A MANE Select ENSP00000243964.4:p.Asp1031Asn
ENST00000243964.6:c.3091G>A ENSP00000243964.3:p.Asp1031Asn
ENST00000454036.6:c.3160G>A ENSP00000387694.1:p.Asp1054Asn
ENST00000616201.4:c.1298-2111G>A ENSP00000484585.1:n.1298-2111G>A
ENST00000616202.4:c.613-1936G>A ENSP00000478369.1:n.613-1936G>A
ENST00000616933.4:c.*2409G>A ENSP00000477569.1:n.*2409G>A
ENST00000626937.2:c.510-3054G>A ENSP00000485953.1:n.510-3054G>A
NM_001134771.1:c.3160G>A NP_001128243.1:p.Asp1054Asn
NM_020708.4:c.3091G>A NP_065759.1:p.Asp1031Asn
XM_017027981.1:c.3160G>A XP_016883470.1:p.Asp1054Asn
NM_001134771.2:c.3160G>A NP_001128243.1:p.Asp1054Asn
NM_020708.5:c.3091G>A MANE Select NP_065759.1:p.Asp1031Asn