Canonical Allele Identifier: CA446343204

Gene: SLC22A5

Linked Data

• dbSNP Id: rs374662740
• gnomAD v2: 5-131728210-C-G
• gnomAD v4: 5-132392518-C-G
• MyVariant Identifiers: chr5:g.131728210C>G (hg19) ; chr5:g.132392518C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132392518C>G , CM000667.2:g.132392518C>G	GRCh38
NC_000005.9:g.131728210C>G , CM000667.1:g.131728210C>G	GRCh37
NC_000005.8:g.131756109C>G	NCBI36
NG_008982.1:g.27810C>G
NG_008982.2:g.27815C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.1194C>G	ENSP00000388838.2:p.Ala398=
ENST00000435065.7:c.1425C>G	ENSP00000402760.2:p.Ala475=
ENST00000448810.6:c.*205C>G	ENSP00000401860.2:n.*205C>G
ENST00000685543.1:n.1494C>G
ENST00000686757.1:c.*517C>G	ENSP00000510721.1:n.*517C>G
ENST00000687740.1:n.4038C>G
ENST00000688151.1:n.2663C>G
ENST00000689271.1:c.1200C>G	ENSP00000510797.1:p.Ala400=
ENST00000690900.1:c.*517C>G	ENSP00000510703.1:n.*517C>G
ENST00000692212.1:n.4493C>G
ENST00000692355.1:c.606C>G
ENST00000692413.1:c.1335C>G	ENSP00000509374.1:p.Ala445=
ENST00000692825.1:c.1421C>G	ENSP00000509447.1:n.1421C>G
ENST00000693308.1:c.1401C>G	ENSP00000509770.1:p.Ala467=
ENST00000693763.1:n.2513C>G
ENST00000245407.8:c.1353C>G MANE Select	ENSP00000245407.3:p.Ala451=
ENST00000245407.7:c.1353C>G	ENSP00000245407.3:p.Ala451=
ENST00000435065.6:c.1425C>G	ENSP00000402760.2:p.Ala475=
ENST00000447841.5:c.197C>G
ENST00000448810.5:c.615C>G
ENST00000461013.5:n.8775C>G
ENST00000475308.1:n.2031C>G
ENST00000479605.5:n.456C>G
NM_001308122.1:c.1425C>G	NP_001295051.1:p.Ala475=
NM_003060.3:c.1353C>G	NP_003051.1:p.Ala451=
XM_011543590.1:c.735C>G	XP_011541892.1:p.Ala245=
XR_948290.1:n.1479C>G
XM_011543590.2:c.735C>G	XP_011541892.1:p.Ala245=
XM_017009778.2:c.825C>G	XP_016865267.1:p.Ala275=
XR_001742215.1:n.1608C>G
XR_001742216.1:n.1627C>G
XR_427718.2:n.1713C>G
XR_948290.2:n.1479C>G
XR_948291.2:n.1707C>G
NM_003060.4:c.1353C>G MANE Select	NP_003051.1:p.Ala451=
NM_001308122.2:c.1425C>G	NP_001295051.1:p.Ala475=