Canonical Allele Identifier: CA409207598

Gene: SLC12A5

Linked Data

• gnomAD v4: 20-46056385-G-C
• MyVariant Identifiers: chr20:g.44685024G>C (hg19) ; chr20:g.46056385G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46056385G>C , CM000682.2:g.46056385G>C	GRCh38
NC_000020.10:g.44685024G>C , CM000682.1:g.44685024G>C	GRCh37
NC_000020.9:g.44118431G>C	NCBI36
NG_046341.1:g.39696G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243964.7:c.2931G>C MANE Select	ENSP00000243964.4:p.Gln977His
ENST00000243964.6:c.2931G>C	ENSP00000243964.3:p.Gln977His
ENST00000454036.6:c.3000G>C	ENSP00000387694.1:p.Gln1000His
ENST00000616201.4:c.1298-2271G>C	ENSP00000484585.1:n.1298-2271G>C
ENST00000616202.4:c.613-2096G>C	ENSP00000478369.1:n.613-2096G>C
ENST00000616933.4:c.*2249G>C	ENSP00000477569.1:n.*2249G>C
ENST00000626937.2:c.510-3214G>C	ENSP00000485953.1:n.510-3214G>C
ENST00000628413.1:n.447G>C
NM_001134771.1:c.3000G>C	NP_001128243.1:p.Gln1000His
NM_020708.4:c.2931G>C	NP_065759.1:p.Gln977His
XM_017027981.1:c.3000G>C	XP_016883470.1:p.Gln1000His
NM_001134771.2:c.3000G>C	NP_001128243.1:p.Gln1000His
NM_020708.5:c.2931G>C MANE Select	NP_065759.1:p.Gln977His