Canonical Allele Identifier: CA360809599

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131729377A>T (hg19) ; chr5:g.132393685A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132393685A>T , CM000667.2:g.132393685A>T	GRCh38
NC_000005.9:g.131729377A>T , CM000667.1:g.131729377A>T	GRCh37
NC_000005.8:g.131757276A>T	NCBI36
NG_008982.1:g.28977A>T
NG_008982.2:g.28982A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1292-500A>T	ENSP00000388838.2:n.1292-500A>T
ENST00000435065.7:c.1532A>T	ENSP00000402760.2:p.Asp511Val
ENST00000448810.6:c.*312A>T	ENSP00000401860.2:n.*312A>T
ENST00000685543.1:n.1601A>T
ENST00000686757.1:c.*624A>T	ENSP00000510721.1:n.*624A>T
ENST00000686868.1:n.452A>T
ENST00000687740.1:n.4145A>T
ENST00000688151.1:n.2770A>T
ENST00000689271.1:c.1307A>T	ENSP00000510797.1:p.Asp436Val
ENST00000690900.1:c.*624A>T	ENSP00000510703.1:n.*624A>T
ENST00000692212.1:n.4600A>T
ENST00000692355.1:c.713A>T
ENST00000692413.1:c.1442A>T	ENSP00000509374.1:p.Asp481Val
ENST00000692825.1:c.1528A>T	ENSP00000509447.1:n.1528A>T
ENST00000693308.1:c.1508A>T	ENSP00000509770.1:p.Asp503Val
ENST00000693763.1:n.2620A>T
ENST00000245407.8:c.1460A>T MANE Select	ENSP00000245407.3:p.Asp487Val
ENST00000245407.7:c.1460A>T	ENSP00000245407.3:p.Asp487Val
ENST00000435065.6:c.1532A>T	ENSP00000402760.2:p.Asp511Val
ENST00000447841.5:c.304A>T
ENST00000448810.5:c.722A>T
ENST00000461013.5:n.8882A>T
ENST00000475308.1:n.2138A>T
NM_001308122.1:c.1532A>T	NP_001295051.1:p.Asp511Val
NM_003060.3:c.1460A>T	NP_003051.1:p.Asp487Val
XM_011543590.1:c.842A>T	XP_011541892.1:p.Asp281Val
XR_948290.1:n.1586A>T
XM_011543590.2:c.842A>T	XP_011541892.1:p.Asp281Val
XM_017009778.2:c.932A>T	XP_016865267.1:p.Asp311Val
XR_001742215.1:n.1715A>T
XR_001742216.1:n.1734A>T
XR_427718.2:n.1820A>T
XR_948290.2:n.1586A>T
XR_948291.2:n.1814A>T
NM_003060.4:c.1460A>T MANE Select	NP_003051.1:p.Asp487Val
NM_001308122.2:c.1532A>T	NP_001295051.1:p.Asp511Val