Canonical Allele Identifier: CA409207942

Gene: SLC12A5

Linked Data

• MyVariant Identifiers: chr20:g.44685131C>G (hg19) ; chr20:g.46056492C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46056492C>G , CM000682.2:g.46056492C>G	GRCh38
NC_000020.10:g.44685131C>G , CM000682.1:g.44685131C>G	GRCh37
NC_000020.9:g.44118538C>G	NCBI36
NG_046341.1:g.39803C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243964.7:c.3038C>G MANE Select	ENSP00000243964.4:p.Ser1013Trp
ENST00000243964.6:c.3038C>G	ENSP00000243964.3:p.Ser1013Trp
ENST00000454036.6:c.3107C>G	ENSP00000387694.1:p.Ser1036Trp
ENST00000616201.4:c.1298-2164C>G	ENSP00000484585.1:n.1298-2164C>G
ENST00000616202.4:c.613-1989C>G	ENSP00000478369.1:n.613-1989C>G
ENST00000616933.4:c.*2356C>G	ENSP00000477569.1:n.*2356C>G
ENST00000626937.2:c.510-3107C>G	ENSP00000485953.1:n.510-3107C>G
ENST00000628413.1:n.554C>G
NM_001134771.1:c.3107C>G	NP_001128243.1:p.Ser1036Trp
NM_020708.4:c.3038C>G	NP_065759.1:p.Ser1013Trp
XM_017027981.1:c.3107C>G	XP_016883470.1:p.Ser1036Trp
NM_001134771.2:c.3107C>G	NP_001128243.1:p.Ser1036Trp
NM_020708.5:c.3038C>G MANE Select	NP_065759.1:p.Ser1013Trp