Canonical Allele Identifier: CA315644593

Gene: SLC12A5

Linked Data

• dbSNP Id: rs1046428000
• MyVariant Identifiers: chr20:g.44685073G>C (hg19) ; chr20:g.46056434G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46056434G>C , CM000682.2:g.46056434G>C	GRCh38
NC_000020.10:g.44685073G>C , CM000682.1:g.44685073G>C	GRCh37
NC_000020.9:g.44118480G>C	NCBI36
NG_046341.1:g.39745G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243964.7:c.2980G>C MANE Select	ENSP00000243964.4:p.Glu994Gln
ENST00000243964.6:c.2980G>C	ENSP00000243964.3:p.Glu994Gln
ENST00000454036.6:c.3049G>C	ENSP00000387694.1:p.Glu1017Gln
ENST00000616201.4:c.1298-2222G>C	ENSP00000484585.1:n.1298-2222G>C
ENST00000616202.4:c.613-2047G>C	ENSP00000478369.1:n.613-2047G>C
ENST00000616933.4:c.*2298G>C	ENSP00000477569.1:n.*2298G>C
ENST00000626937.2:c.510-3165G>C	ENSP00000485953.1:n.510-3165G>C
ENST00000628413.1:n.496G>C
NM_001134771.1:c.3049G>C	NP_001128243.1:p.Glu1017Gln
NM_020708.4:c.2980G>C	NP_065759.1:p.Glu994Gln
XM_017027981.1:c.3049G>C	XP_016883470.1:p.Glu1017Gln
NM_001134771.2:c.3049G>C	NP_001128243.1:p.Glu1017Gln
NM_020708.5:c.2980G>C MANE Select	NP_065759.1:p.Glu994Gln