Canonical Allele Identifier: CA409208318

Gene: SLC12A5

Linked Data

• MyVariant Identifiers: chr20:g.44685197T>A (hg19) ; chr20:g.46056558T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46056558T>A , CM000682.2:g.46056558T>A	GRCh38
NC_000020.10:g.44685197T>A , CM000682.1:g.44685197T>A	GRCh37
NC_000020.9:g.44118604T>A	NCBI36
NG_046341.1:g.39869T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243964.7:c.3104T>A MANE Select	ENSP00000243964.4:p.Met1035Lys
ENST00000243964.6:c.3104T>A	ENSP00000243964.3:p.Met1035Lys
ENST00000454036.6:c.3173T>A	ENSP00000387694.1:p.Met1058Lys
ENST00000616201.4:c.1298-2098T>A	ENSP00000484585.1:n.1298-2098T>A
ENST00000616202.4:c.613-1923T>A	ENSP00000478369.1:n.613-1923T>A
ENST00000616933.4:c.*2422T>A	ENSP00000477569.1:n.*2422T>A
ENST00000626937.2:c.510-3041T>A	ENSP00000485953.1:n.510-3041T>A
NM_001134771.1:c.3173T>A	NP_001128243.1:p.Met1058Lys
NM_020708.4:c.3104T>A	NP_065759.1:p.Met1035Lys
XM_017027981.1:c.3173T>A	XP_016883470.1:p.Met1058Lys
NM_001134771.2:c.3173T>A	NP_001128243.1:p.Met1058Lys
NM_020708.5:c.3104T>A MANE Select	NP_065759.1:p.Met1035Lys