Canonical Allele Identifier: CA360807669

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131726498C>A (hg19) ; chr5:g.132390806C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390806C>A , CM000667.2:g.132390806C>A	GRCh38
NC_000005.9:g.131726498C>A , CM000667.1:g.131726498C>A	GRCh37
NC_000005.8:g.131754397C>A	NCBI36
NG_008982.1:g.26098C>A
NG_008982.2:g.26103C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1010C>A	ENSP00000388838.2:p.Ala337Asp
ENST00000435065.7:c.1241C>A	ENSP00000402760.2:p.Ala414Asp
ENST00000448810.6:c.*21C>A	ENSP00000401860.2:n.*21C>A
ENST00000685543.1:n.1310C>A
ENST00000686757.1:c.*333C>A	ENSP00000510721.1:n.*333C>A
ENST00000687740.1:n.3854C>A
ENST00000688151.1:n.2479C>A
ENST00000689271.1:c.1016C>A	ENSP00000510797.1:p.Ala339Asp
ENST00000690900.1:c.*333C>A	ENSP00000510703.1:n.*333C>A
ENST00000692212.1:n.2781C>A
ENST00000692355.1:c.422C>A
ENST00000692413.1:c.1151C>A	ENSP00000509374.1:p.Ala384Asp
ENST00000692825.1:c.1237C>A	ENSP00000509447.1:n.1237C>A
ENST00000693308.1:c.1217C>A	ENSP00000509770.1:p.Ala406Asp
ENST00000693763.1:n.2329C>A
ENST00000245407.8:c.1169C>A MANE Select	ENSP00000245407.3:p.Ala390Asp
ENST00000245407.7:c.1169C>A	ENSP00000245407.3:p.Ala390Asp
ENST00000435065.6:c.1241C>A	ENSP00000402760.2:p.Ala414Asp
ENST00000447841.5:c.112-1627C>A
ENST00000448810.5:c.431C>A
ENST00000461013.5:n.8591C>A
ENST00000475308.1:n.1847C>A
ENST00000479605.5:n.272C>A
NM_001308122.1:c.1241C>A	NP_001295051.1:p.Ala414Asp
NM_003060.3:c.1169C>A	NP_003051.1:p.Ala390Asp
XM_011543590.1:c.551C>A	XP_011541892.1:p.Ala184Asp
XR_427718.1:n.1529C>A
XR_948290.1:n.1394-1627C>A
XR_948291.1:n.1523C>A
XM_011543590.2:c.551C>A	XP_011541892.1:p.Ala184Asp
XM_017009778.2:c.641C>A	XP_016865267.1:p.Ala214Asp
XR_001742215.1:n.1424C>A
XR_001742216.1:n.1443C>A
XR_427718.2:n.1529C>A
XR_948290.2:n.1394-1627C>A
XR_948291.2:n.1523C>A
NM_003060.4:c.1169C>A MANE Select	NP_003051.1:p.Ala390Asp
NM_001308122.2:c.1241C>A	NP_001295051.1:p.Ala414Asp