Canonical Allele Identifier: CA2366499478

Gene: SLC12A5

Linked Data

• dbSNP Id: rs2084689559

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46056145C>A , CM000682.2:g.46056145C>A	GRCh38
NC_000020.10:g.44684784C>A , CM000682.1:g.44684784C>A	GRCh37
NC_000020.9:g.44118191C>A	NCBI36
NG_046341.1:g.39456C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243964.7:c.2788-5C>A MANE Select	ENSP00000243964.4:n.2788-5C>A
ENST00000243964.6:c.2788-5C>A	ENSP00000243964.3:n.2788-5C>A
ENST00000454036.6:c.2857-5C>A	ENSP00000387694.1:n.2857-5C>A
ENST00000616201.4:c.1298-2511C>A	ENSP00000484585.1:n.1298-2511C>A
ENST00000616202.4:c.613-2336C>A	ENSP00000478369.1:n.613-2336C>A
ENST00000616933.4:c.*2106-5C>A	ENSP00000477569.1:n.*2106-5C>A
ENST00000626937.2:c.510-3454C>A	ENSP00000485953.1:n.510-3454C>A
ENST00000628413.1:n.299C>A
NM_001134771.1:c.2857-5C>A	NP_001128243.1:n.2857-5C>A
NM_020708.4:c.2788-5C>A	NP_065759.1:n.2788-5C>A
XM_017027981.1:c.2857-5C>A	XP_016883470.1:n.2857-5C>A
NM_001134771.2:c.2857-5C>A	NP_001128243.1:n.2857-5C>A
NM_020708.5:c.2788-5C>A MANE Select	NP_065759.1:n.2788-5C>A