Canonical Allele Identifier: CA409207399

Gene: SLC12A5

Linked Data

• MyVariant Identifiers: chr20:g.44684843A>T (hg19) ; chr20:g.46056204A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46056204A>T , CM000682.2:g.46056204A>T	GRCh38
NC_000020.10:g.44684843A>T , CM000682.1:g.44684843A>T	GRCh37
NC_000020.9:g.44118250A>T	NCBI36
NG_046341.1:g.39515A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000243964.7:c.2842A>T MANE Select	ENSP00000243964.4:p.Asn948Tyr
ENST00000243964.6:c.2842A>T	ENSP00000243964.3:p.Asn948Tyr
ENST00000454036.6:c.2911A>T	ENSP00000387694.1:p.Asn971Tyr
ENST00000616201.4:c.1298-2452A>T	ENSP00000484585.1:n.1298-2452A>T
ENST00000616202.4:c.613-2277A>T	ENSP00000478369.1:n.613-2277A>T
ENST00000616933.4:c.*2160A>T	ENSP00000477569.1:n.*2160A>T
ENST00000626937.2:c.510-3395A>T	ENSP00000485953.1:n.510-3395A>T
ENST00000628413.1:n.358A>T
NM_001134771.1:c.2911A>T	NP_001128243.1:p.Asn971Tyr
NM_020708.4:c.2842A>T	NP_065759.1:p.Asn948Tyr
XM_017027981.1:c.2911A>T	XP_016883470.1:p.Asn971Tyr
NM_001134771.2:c.2911A>T	NP_001128243.1:p.Asn971Tyr
NM_020708.5:c.2842A>T MANE Select	NP_065759.1:p.Asn948Tyr