Canonical Allele Identifier: CA360809727

Gene: SLC22A5

Linked Data

• gnomAD v4: 5-132393708-A-C
• MyVariant Identifiers: chr5:g.131729400A>C (hg19) ; chr5:g.132393708A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132393708A>C , CM000667.2:g.132393708A>C	GRCh38
NC_000005.9:g.131729400A>C , CM000667.1:g.131729400A>C	GRCh37
NC_000005.8:g.131757299A>C	NCBI36
NG_008982.1:g.29000A>C
NG_008982.2:g.29005A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1292-477A>C	ENSP00000388838.2:n.1292-477A>C
ENST00000435065.7:c.1555A>C	ENSP00000402760.2:p.Met519Leu
ENST00000448810.6:c.*335A>C	ENSP00000401860.2:n.*335A>C
ENST00000685543.1:n.1624A>C
ENST00000686757.1:c.*647A>C	ENSP00000510721.1:n.*647A>C
ENST00000686868.1:n.475A>C
ENST00000687740.1:n.4168A>C
ENST00000688151.1:n.2793A>C
ENST00000689271.1:c.1330A>C	ENSP00000510797.1:p.Met444Leu
ENST00000690900.1:c.*647A>C	ENSP00000510703.1:n.*647A>C
ENST00000692212.1:n.4623A>C
ENST00000692355.1:c.736A>C
ENST00000692413.1:c.1465A>C	ENSP00000509374.1:p.Met489Leu
ENST00000692825.1:c.1551A>C	ENSP00000509447.1:n.1551A>C
ENST00000693308.1:c.1531A>C	ENSP00000509770.1:p.Met511Leu
ENST00000693763.1:n.2643A>C
ENST00000245407.8:c.1483A>C MANE Select	ENSP00000245407.3:p.Met495Leu
ENST00000245407.7:c.1483A>C	ENSP00000245407.3:p.Met495Leu
ENST00000435065.6:c.1555A>C	ENSP00000402760.2:p.Met519Leu
ENST00000447841.5:c.327A>C
ENST00000448810.5:c.745A>C
ENST00000461013.5:n.8905A>C
ENST00000475308.1:n.2161A>C
NM_001308122.1:c.1555A>C	NP_001295051.1:p.Met519Leu
NM_003060.3:c.1483A>C	NP_003051.1:p.Met495Leu
XM_011543590.1:c.865A>C	XP_011541892.1:p.Met289Leu
XR_948290.1:n.1609A>C
XM_011543590.2:c.865A>C	XP_011541892.1:p.Met289Leu
XM_017009778.2:c.955A>C	XP_016865267.1:p.Met319Leu
XR_001742215.1:n.1738A>C
XR_001742216.1:n.1757A>C
XR_427718.2:n.1843A>C
XR_948290.2:n.1609A>C
XR_948291.2:n.1837A>C
NM_003060.4:c.1483A>C MANE Select	NP_003051.1:p.Met495Leu
NM_001308122.2:c.1555A>C	NP_001295051.1:p.Met519Leu