Canonical Allele Identifier: CA510755048

Gene: SLC12A5

Linked Data

• MyVariant Identifiers: chr20:g.44684849C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46056210C>A , CM000682.2:g.46056210C>A	GRCh38
NC_000020.10:g.44684849C>A , CM000682.1:g.44684849C>A	GRCh37
NC_000020.9:g.44118256C>A	NCBI36
NG_046341.1:g.39521C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000243964.7:c.2848C>A MANE Select	ENSP00000243964.4:p.Arg950=
ENST00000243964.6:c.2848C>A	ENSP00000243964.3:p.Arg950=
ENST00000454036.6:c.2917C>A	ENSP00000387694.1:p.Arg973=
ENST00000616201.4:c.1298-2446C>A	ENSP00000484585.1:n.1298-2446C>A
ENST00000616202.4:c.613-2271C>A	ENSP00000478369.1:n.613-2271C>A
ENST00000616933.4:c.*2166C>A	ENSP00000477569.1:n.*2166C>A
ENST00000626937.2:c.510-3389C>A	ENSP00000485953.1:n.510-3389C>A
ENST00000628413.1:n.364C>A
NM_001134771.1:c.2917C>A	NP_001128243.1:p.Arg973=
NM_020708.4:c.2848C>A	NP_065759.1:p.Arg950=
XM_017027981.1:c.2917C>A	XP_016883470.1:p.Arg973=
NM_001134771.2:c.2917C>A	NP_001128243.1:p.Arg973=
NM_020708.5:c.2848C>A MANE Select	NP_065759.1:p.Arg950=