Canonical Allele Identifier: CA360807671

Gene: SLC22A5

Linked Data

• dbSNP Id: rs1752671467
• gnomAD v3: 5-132390806-C-T
• gnomAD v4: 5-132390806-C-T
• MyVariant Identifiers: chr5:g.131726498C>T (hg19) ; chr5:g.132390806C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1010C>T	ENSP00000388838.2:p.Ala337Val
ENST00000435065.7:c.1241C>T	ENSP00000402760.2:p.Ala414Val
ENST00000448810.6:c.*21C>T	ENSP00000401860.2:n.*21C>T
ENST00000685543.1:n.1310C>T
ENST00000686757.1:c.*333C>T	ENSP00000510721.1:n.*333C>T
ENST00000687740.1:n.3854C>T
ENST00000688151.1:n.2479C>T
ENST00000689271.1:c.1016C>T	ENSP00000510797.1:p.Ala339Val
ENST00000690900.1:c.*333C>T	ENSP00000510703.1:n.*333C>T
ENST00000692212.1:n.2781C>T
ENST00000692355.1:c.422C>T
ENST00000692413.1:c.1151C>T	ENSP00000509374.1:p.Ala384Val
ENST00000692825.1:c.1237C>T	ENSP00000509447.1:n.1237C>T
ENST00000693308.1:c.1217C>T	ENSP00000509770.1:p.Ala406Val
ENST00000693763.1:n.2329C>T
ENST00000245407.8:c.1169C>T MANE Select	ENSP00000245407.3:p.Ala390Val
ENST00000245407.7:c.1169C>T	ENSP00000245407.3:p.Ala390Val
ENST00000435065.6:c.1241C>T	ENSP00000402760.2:p.Ala414Val
ENST00000447841.5:c.112-1627C>T
ENST00000448810.5:c.431C>T
ENST00000461013.5:n.8591C>T
ENST00000475308.1:n.1847C>T
ENST00000479605.5:n.272C>T
NM_001308122.1:c.1241C>T	NP_001295051.1:p.Ala414Val
NM_003060.3:c.1169C>T	NP_003051.1:p.Ala390Val
XM_011543590.1:c.551C>T	XP_011541892.1:p.Ala184Val
XR_427718.1:n.1529C>T
XR_948290.1:n.1394-1627C>T
XR_948291.1:n.1523C>T
XM_011543590.2:c.551C>T	XP_011541892.1:p.Ala184Val
XM_017009778.2:c.641C>T	XP_016865267.1:p.Ala214Val
XR_001742215.1:n.1424C>T
XR_001742216.1:n.1443C>T
XR_427718.2:n.1529C>T
XR_948290.2:n.1394-1627C>T
XR_948291.2:n.1523C>T
NM_003060.4:c.1169C>T MANE Select	NP_003051.1:p.Ala390Val
NM_001308122.2:c.1241C>T	NP_001295051.1:p.Ala414Val