Canonical Allele Identifier: CA360809804

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131729425C>A (hg19) ; chr5:g.132393733C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132393733C>A , CM000667.2:g.132393733C>A	GRCh38
NC_000005.9:g.131729425C>A , CM000667.1:g.131729425C>A	GRCh37
NC_000005.8:g.131757324C>A	NCBI36
NG_008982.1:g.29025C>A
NG_008982.2:g.29030C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1292-452C>A	ENSP00000388838.2:n.1292-452C>A
ENST00000435065.7:c.1580C>A	ENSP00000402760.2:p.Ala527Asp
ENST00000448810.6:c.*360C>A	ENSP00000401860.2:n.*360C>A
ENST00000685543.1:n.1649C>A
ENST00000686757.1:c.*672C>A	ENSP00000510721.1:n.*672C>A
ENST00000686868.1:n.500C>A
ENST00000687740.1:n.4193C>A
ENST00000688151.1:n.2818C>A
ENST00000689271.1:c.1355C>A	ENSP00000510797.1:p.Ala452Asp
ENST00000690900.1:c.*672C>A	ENSP00000510703.1:n.*672C>A
ENST00000692212.1:n.4648C>A
ENST00000692355.1:c.761C>A
ENST00000692413.1:c.1490C>A	ENSP00000509374.1:p.Ala497Asp
ENST00000692825.1:c.1576C>A	ENSP00000509447.1:n.1576C>A
ENST00000693308.1:c.1556C>A	ENSP00000509770.1:p.Ala519Asp
ENST00000693763.1:n.2668C>A
ENST00000245407.8:c.1508C>A MANE Select	ENSP00000245407.3:p.Ala503Asp
ENST00000245407.7:c.1508C>A	ENSP00000245407.3:p.Ala503Asp
ENST00000435065.6:c.1580C>A	ENSP00000402760.2:p.Ala527Asp
ENST00000447841.5:c.352C>A
ENST00000448810.5:c.770C>A
ENST00000461013.5:n.8930C>A
ENST00000475308.1:n.2186C>A
NM_001308122.1:c.1580C>A	NP_001295051.1:p.Ala527Asp
NM_003060.3:c.1508C>A	NP_003051.1:p.Ala503Asp
XM_011543590.1:c.890C>A	XP_011541892.1:p.Ala297Asp
XR_948290.1:n.1634C>A
XM_011543590.2:c.890C>A	XP_011541892.1:p.Ala297Asp
XM_017009778.2:c.980C>A	XP_016865267.1:p.Ala327Asp
XR_001742215.1:n.1763C>A
XR_001742216.1:n.1782C>A
XR_427718.2:n.1868C>A
XR_948290.2:n.1634C>A
XR_948291.2:n.1862C>A
NM_003060.4:c.1508C>A MANE Select	NP_003051.1:p.Ala503Asp
NM_001308122.2:c.1580C>A	NP_001295051.1:p.Ala527Asp