Canonical Allele Identifier: CA360807651

Gene: SLC22A5

Linked Data

• gnomAD v4: 5-132390797-A-G
• MyVariant Identifiers: chr5:g.131726489A>G (hg19) ; chr5:g.132390797A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390797A>G , CM000667.2:g.132390797A>G	GRCh38
NC_000005.9:g.131726489A>G , CM000667.1:g.131726489A>G	GRCh37
NC_000005.8:g.131754388A>G	NCBI36
NG_008982.1:g.26089A>G
NG_008982.2:g.26094A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1001A>G	ENSP00000388838.2:p.Tyr334Cys
ENST00000435065.7:c.1232A>G	ENSP00000402760.2:p.Tyr411Cys
ENST00000448810.6:c.*12A>G	ENSP00000401860.2:n.*12A>G
ENST00000685543.1:n.1301A>G
ENST00000686757.1:c.*324A>G	ENSP00000510721.1:n.*324A>G
ENST00000687740.1:n.3845A>G
ENST00000688151.1:n.2470A>G
ENST00000689271.1:c.1007A>G	ENSP00000510797.1:p.Tyr336Cys
ENST00000690900.1:c.*324A>G	ENSP00000510703.1:n.*324A>G
ENST00000692212.1:n.2772A>G
ENST00000692355.1:c.413A>G
ENST00000692413.1:c.1142A>G	ENSP00000509374.1:p.Tyr381Cys
ENST00000692825.1:c.1228A>G	ENSP00000509447.1:n.1228A>G
ENST00000693308.1:c.1208A>G	ENSP00000509770.1:p.Tyr403Cys
ENST00000693763.1:n.2320A>G
ENST00000245407.8:c.1160A>G MANE Select	ENSP00000245407.3:p.Tyr387Cys
ENST00000245407.7:c.1160A>G	ENSP00000245407.3:p.Tyr387Cys
ENST00000435065.6:c.1232A>G	ENSP00000402760.2:p.Tyr411Cys
ENST00000447841.5:c.112-1636A>G
ENST00000448810.5:c.422A>G
ENST00000461013.5:n.8582A>G
ENST00000475308.1:n.1838A>G
ENST00000479605.5:n.263A>G
NM_001308122.1:c.1232A>G	NP_001295051.1:p.Tyr411Cys
NM_003060.3:c.1160A>G	NP_003051.1:p.Tyr387Cys
XM_011543590.1:c.542A>G	XP_011541892.1:p.Tyr181Cys
XR_427718.1:n.1520A>G
XR_948290.1:n.1394-1636A>G
XR_948291.1:n.1514A>G
XM_011543590.2:c.542A>G	XP_011541892.1:p.Tyr181Cys
XM_017009778.2:c.632A>G	XP_016865267.1:p.Tyr211Cys
XR_001742215.1:n.1415A>G
XR_001742216.1:n.1434A>G
XR_427718.2:n.1520A>G
XR_948290.2:n.1394-1636A>G
XR_948291.2:n.1514A>G
NM_003060.4:c.1160A>G MANE Select	NP_003051.1:p.Tyr387Cys
NM_001308122.2:c.1232A>G	NP_001295051.1:p.Tyr411Cys