Canonical Allele Identifier: CA510755038

Gene: SLC12A5

Linked Data

• ClinVar Variation Id: 1565935
• ClinVar RCV Id: RCV002205573
• dbSNP Id: rs1273740578
• gnomAD v3: 20-46056206-C-T
• gnomAD v4: 20-46056206-C-T
• MyVariant Identifiers: chr20:g.44684845C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46056206C>T , CM000682.2:g.46056206C>T	GRCh38
NC_000020.10:g.44684845C>T , CM000682.1:g.44684845C>T	GRCh37
NC_000020.9:g.44118252C>T	NCBI36
NG_046341.1:g.39517C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000243964.7:c.2844C>T MANE Select	ENSP00000243964.4:p.Asn948=
ENST00000243964.6:c.2844C>T	ENSP00000243964.3:p.Asn948=
ENST00000454036.6:c.2913C>T	ENSP00000387694.1:p.Asn971=
ENST00000616201.4:c.1298-2450C>T	ENSP00000484585.1:n.1298-2450C>T
ENST00000616202.4:c.613-2275C>T	ENSP00000478369.1:n.613-2275C>T
ENST00000616933.4:c.*2162C>T	ENSP00000477569.1:n.*2162C>T
ENST00000626937.2:c.510-3393C>T	ENSP00000485953.1:n.510-3393C>T
ENST00000628413.1:n.360C>T
NM_001134771.1:c.2913C>T	NP_001128243.1:p.Asn971=
NM_020708.4:c.2844C>T	NP_065759.1:p.Asn948=
XM_017027981.1:c.2913C>T	XP_016883470.1:p.Asn971=
NM_001134771.2:c.2913C>T	NP_001128243.1:p.Asn971=
NM_020708.5:c.2844C>T MANE Select	NP_065759.1:p.Asn948=