Canonical Allele Identifier: CA360805530

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131722730T>G (hg19) ; chr5:g.132387038T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132387038T>G , CM000667.2:g.132387038T>G	GRCh38
NC_000005.9:g.131722730T>G , CM000667.1:g.131722730T>G	GRCh37
NC_000005.8:g.131750629T>G	NCBI36
NG_008982.1:g.22330T>G
NG_008982.2:g.22335T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.679T>G	ENSP00000388838.2:p.Ser227Ala
ENST00000435065.7:c.910T>G	ENSP00000402760.2:p.Ser304Ala
ENST00000448810.6:c.838T>G	ENSP00000401860.2:p.Ser280Ala
ENST00000686757.1:c.*2T>G	ENSP00000510721.1:n.*2T>G
ENST00000687740.1:n.3523T>G
ENST00000688151.1:n.2148T>G
ENST00000689271.1:c.685T>G	ENSP00000510797.1:p.Ser229Ala
ENST00000690900.1:c.*2T>G	ENSP00000510703.1:n.*2T>G
ENST00000692212.1:n.782T>G
ENST00000692355.1:c.205-1883T>G
ENST00000692413.1:c.844-24T>G	ENSP00000509374.1:n.844-24T>G
ENST00000692825.1:c.906T>G	ENSP00000509447.1:n.906T>G
ENST00000693308.1:c.886T>G	ENSP00000509770.1:p.Ser296Ala
ENST00000693763.1:n.1998T>G
ENST00000245407.8:c.838T>G MANE Select	ENSP00000245407.3:p.Ser280Ala
ENST00000245407.7:c.838T>G	ENSP00000245407.3:p.Ser280Ala
ENST00000415928.5:c.607T>G	ENSP00000388838.1:p.Ser203Ala
ENST00000435065.6:c.910T>G	ENSP00000402760.2:p.Ser304Ala
ENST00000437841.6:c.*153T>G	ENSP00000400553.1:n.*153T>G
ENST00000448810.5:c.186T>G
ENST00000461013.5:n.8260T>G
NM_001308122.1:c.910T>G	NP_001295051.1:p.Ser304Ala
NM_003060.3:c.838T>G	NP_003051.1:p.Ser280Ala
XM_011543590.1:c.220T>G	XP_011541892.1:p.Ser74Ala
XR_427718.1:n.1198T>G
XR_948290.1:n.1179T>G
XR_948291.1:n.1192T>G
XM_011543590.2:c.220T>G	XP_011541892.1:p.Ser74Ala
XM_017009778.2:c.310T>G	XP_016865267.1:p.Ser104Ala
XR_001742215.1:n.1179T>G
XR_001742216.1:n.1198T>G
XR_427718.2:n.1198T>G
XR_948290.2:n.1179T>G
XR_948291.2:n.1192T>G
NM_003060.4:c.838T>G MANE Select	NP_003051.1:p.Ser280Ala
NM_001308122.2:c.910T>G	NP_001295051.1:p.Ser304Ala