Canonical Allele Identifier: CA360809570

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131729373T>G (hg19) ; chr5:g.132393681T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132393681T>G , CM000667.2:g.132393681T>G	GRCh38
NC_000005.9:g.131729373T>G , CM000667.1:g.131729373T>G	GRCh37
NC_000005.8:g.131757272T>G	NCBI36
NG_008982.1:g.28973T>G
NG_008982.2:g.28978T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1292-504T>G	ENSP00000388838.2:n.1292-504T>G
ENST00000435065.7:c.1528T>G	ENSP00000402760.2:p.Tyr510Asp
ENST00000448810.6:c.*308T>G	ENSP00000401860.2:n.*308T>G
ENST00000685543.1:n.1597T>G
ENST00000686757.1:c.*620T>G	ENSP00000510721.1:n.*620T>G
ENST00000686868.1:n.448T>G
ENST00000687740.1:n.4141T>G
ENST00000688151.1:n.2766T>G
ENST00000689271.1:c.1303T>G	ENSP00000510797.1:p.Tyr435Asp
ENST00000690900.1:c.*620T>G	ENSP00000510703.1:n.*620T>G
ENST00000692212.1:n.4596T>G
ENST00000692355.1:c.709T>G
ENST00000692413.1:c.1438T>G	ENSP00000509374.1:p.Tyr480Asp
ENST00000692825.1:c.1524T>G	ENSP00000509447.1:n.1524T>G
ENST00000693308.1:c.1504T>G	ENSP00000509770.1:p.Tyr502Asp
ENST00000693763.1:n.2616T>G
ENST00000245407.8:c.1456T>G MANE Select	ENSP00000245407.3:p.Tyr486Asp
ENST00000245407.7:c.1456T>G	ENSP00000245407.3:p.Tyr486Asp
ENST00000435065.6:c.1528T>G	ENSP00000402760.2:p.Tyr510Asp
ENST00000447841.5:c.300T>G
ENST00000448810.5:c.718T>G
ENST00000461013.5:n.8878T>G
ENST00000475308.1:n.2134T>G
ENST00000479605.5:n.559T>G
NM_001308122.1:c.1528T>G	NP_001295051.1:p.Tyr510Asp
NM_003060.3:c.1456T>G	NP_003051.1:p.Tyr486Asp
XM_011543590.1:c.838T>G	XP_011541892.1:p.Tyr280Asp
XR_948290.1:n.1582T>G
XM_011543590.2:c.838T>G	XP_011541892.1:p.Tyr280Asp
XM_017009778.2:c.928T>G	XP_016865267.1:p.Tyr310Asp
XR_001742215.1:n.1711T>G
XR_001742216.1:n.1730T>G
XR_427718.2:n.1816T>G
XR_948290.2:n.1582T>G
XR_948291.2:n.1810T>G
NM_003060.4:c.1456T>G MANE Select	NP_003051.1:p.Tyr486Asp
NM_001308122.2:c.1528T>G	NP_001295051.1:p.Tyr510Asp