Canonical Allele Identifier: CA360809715

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131729397C>G (hg19) ; chr5:g.132393705C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132393705C>G , CM000667.2:g.132393705C>G	GRCh38
NC_000005.9:g.131729397C>G , CM000667.1:g.131729397C>G	GRCh37
NC_000005.8:g.131757296C>G	NCBI36
NG_008982.1:g.28997C>G
NG_008982.2:g.29002C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1292-480C>G	ENSP00000388838.2:n.1292-480C>G
ENST00000435065.7:c.1552C>G	ENSP00000402760.2:p.Leu518Val
ENST00000448810.6:c.*332C>G	ENSP00000401860.2:n.*332C>G
ENST00000685543.1:n.1621C>G
ENST00000686757.1:c.*644C>G	ENSP00000510721.1:n.*644C>G
ENST00000686868.1:n.472C>G
ENST00000687740.1:n.4165C>G
ENST00000688151.1:n.2790C>G
ENST00000689271.1:c.1327C>G	ENSP00000510797.1:p.Leu443Val
ENST00000690900.1:c.*644C>G	ENSP00000510703.1:n.*644C>G
ENST00000692212.1:n.4620C>G
ENST00000692355.1:c.733C>G
ENST00000692413.1:c.1462C>G	ENSP00000509374.1:p.Leu488Val
ENST00000692825.1:c.1548C>G	ENSP00000509447.1:n.1548C>G
ENST00000693308.1:c.1528C>G	ENSP00000509770.1:p.Leu510Val
ENST00000693763.1:n.2640C>G
ENST00000245407.8:c.1480C>G MANE Select	ENSP00000245407.3:p.Leu494Val
ENST00000245407.7:c.1480C>G	ENSP00000245407.3:p.Leu494Val
ENST00000435065.6:c.1552C>G	ENSP00000402760.2:p.Leu518Val
ENST00000447841.5:c.324C>G
ENST00000448810.5:c.742C>G
ENST00000461013.5:n.8902C>G
ENST00000475308.1:n.2158C>G
NM_001308122.1:c.1552C>G	NP_001295051.1:p.Leu518Val
NM_003060.3:c.1480C>G	NP_003051.1:p.Leu494Val
XM_011543590.1:c.862C>G	XP_011541892.1:p.Leu288Val
XR_948290.1:n.1606C>G
XM_011543590.2:c.862C>G	XP_011541892.1:p.Leu288Val
XM_017009778.2:c.952C>G	XP_016865267.1:p.Leu318Val
XR_001742215.1:n.1735C>G
XR_001742216.1:n.1754C>G
XR_427718.2:n.1840C>G
XR_948290.2:n.1606C>G
XR_948291.2:n.1834C>G
NM_003060.4:c.1480C>G MANE Select	NP_003051.1:p.Leu494Val
NM_001308122.2:c.1552C>G	NP_001295051.1:p.Leu518Val