Canonical Allele Identifier: CA127213058

Gene: SLC22A5

Linked Data

• dbSNP Id: rs1020856343
• gnomAD v2: 5-131729397-C-T
• gnomAD v4: 5-132393705-C-T
• COSMIC: COSM5593137 ; COSM5593138
• MyVariant Identifiers: chr5:g.131729397C>T (hg19) ; chr5:g.132393705C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1292-480C>T	ENSP00000388838.2:n.1292-480C>T
ENST00000435065.7:c.1552C>T	ENSP00000402760.2:p.Leu518Phe
ENST00000448810.6:c.*332C>T	ENSP00000401860.2:n.*332C>T
ENST00000685543.1:n.1621C>T
ENST00000686757.1:c.*644C>T	ENSP00000510721.1:n.*644C>T
ENST00000686868.1:n.472C>T
ENST00000687740.1:n.4165C>T
ENST00000688151.1:n.2790C>T
ENST00000689271.1:c.1327C>T	ENSP00000510797.1:p.Leu443Phe
ENST00000690900.1:c.*644C>T	ENSP00000510703.1:n.*644C>T
ENST00000692212.1:n.4620C>T
ENST00000692355.1:c.733C>T
ENST00000692413.1:c.1462C>T	ENSP00000509374.1:p.Leu488Phe
ENST00000692825.1:c.1548C>T	ENSP00000509447.1:n.1548C>T
ENST00000693308.1:c.1528C>T	ENSP00000509770.1:p.Leu510Phe
ENST00000693763.1:n.2640C>T
ENST00000245407.8:c.1480C>T MANE Select	ENSP00000245407.3:p.Leu494Phe
ENST00000245407.7:c.1480C>T	ENSP00000245407.3:p.Leu494Phe
ENST00000435065.6:c.1552C>T	ENSP00000402760.2:p.Leu518Phe
ENST00000447841.5:c.324C>T
ENST00000448810.5:c.742C>T
ENST00000461013.5:n.8902C>T
ENST00000475308.1:n.2158C>T
NM_001308122.1:c.1552C>T	NP_001295051.1:p.Leu518Phe
NM_003060.3:c.1480C>T	NP_003051.1:p.Leu494Phe
XM_011543590.1:c.862C>T	XP_011541892.1:p.Leu288Phe
XR_948290.1:n.1606C>T
XM_011543590.2:c.862C>T	XP_011541892.1:p.Leu288Phe
XM_017009778.2:c.952C>T	XP_016865267.1:p.Leu318Phe
XR_001742215.1:n.1735C>T
XR_001742216.1:n.1754C>T
XR_427718.2:n.1840C>T
XR_948290.2:n.1606C>T
XR_948291.2:n.1834C>T
NM_003060.4:c.1480C>T MANE Select	NP_003051.1:p.Leu494Phe
NM_001308122.2:c.1552C>T	NP_001295051.1:p.Leu518Phe