Canonical Allele Identifier: CA409207636

Gene: SLC12A5

Linked Data

• dbSNP Id: rs2084694184
• gnomAD v4: 20-46056397-C-G
• MyVariant Identifiers: chr20:g.44685036C>G (hg19) ; chr20:g.46056397C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46056397C>G , CM000682.2:g.46056397C>G	GRCh38
NC_000020.10:g.44685036C>G , CM000682.1:g.44685036C>G	GRCh37
NC_000020.9:g.44118443C>G	NCBI36
NG_046341.1:g.39708C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243964.7:c.2943C>G MANE Select	ENSP00000243964.4:p.Ser981Arg
ENST00000243964.6:c.2943C>G	ENSP00000243964.3:p.Ser981Arg
ENST00000454036.6:c.3012C>G	ENSP00000387694.1:p.Ser1004Arg
ENST00000616201.4:c.1298-2259C>G	ENSP00000484585.1:n.1298-2259C>G
ENST00000616202.4:c.613-2084C>G	ENSP00000478369.1:n.613-2084C>G
ENST00000616933.4:c.*2261C>G	ENSP00000477569.1:n.*2261C>G
ENST00000626937.2:c.510-3202C>G	ENSP00000485953.1:n.510-3202C>G
ENST00000628413.1:n.459C>G
NM_001134771.1:c.3012C>G	NP_001128243.1:p.Ser1004Arg
NM_020708.4:c.2943C>G	NP_065759.1:p.Ser981Arg
XM_017027981.1:c.3012C>G	XP_016883470.1:p.Ser1004Arg
NM_001134771.2:c.3012C>G	NP_001128243.1:p.Ser1004Arg
NM_020708.5:c.2943C>G MANE Select	NP_065759.1:p.Ser981Arg