Canonical Allele Identifier: CA360810241

Gene: SLC22A5

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132394219A>C , CM000667.2:g.132394219A>C	GRCh38
NC_000005.9:g.131729911A>C , CM000667.1:g.131729911A>C	GRCh37
NC_000005.8:g.131757810A>C	NCBI36
NG_008982.1:g.29511A>C
NG_008982.2:g.29516A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.*30A>C	ENSP00000388838.2:n.*30A>C
ENST00000435065.7:c.1693A>C	ENSP00000402760.2:p.Met565Leu
ENST00000448810.6:c.*473A>C	ENSP00000401860.2:n.*473A>C
ENST00000685543.1:n.1762A>C
ENST00000686757.1:c.*785A>C	ENSP00000510721.1:n.*785A>C
ENST00000686868.1:n.613A>C
ENST00000687740.1:n.4306A>C
ENST00000688151.1:n.2931A>C
ENST00000689271.1:c.1468A>C	ENSP00000510797.1:p.Met490Leu
ENST00000690900.1:c.*785A>C	ENSP00000510703.1:n.*785A>C
ENST00000692212.1:n.4761A>C
ENST00000692355.1:c.874A>C
ENST00000692413.1:c.1603A>C	ENSP00000509374.1:p.Met535Leu
ENST00000692825.1:c.1689A>C	ENSP00000509447.1:n.1689A>C
ENST00000693308.1:c.1669A>C	ENSP00000509770.1:p.Met557Leu
ENST00000693763.1:n.2781A>C
ENST00000245407.8:c.1621A>C MANE Select	ENSP00000245407.3:p.Met541Leu
ENST00000245407.7:c.1621A>C	ENSP00000245407.3:p.Met541Leu
ENST00000435065.6:c.1693A>C	ENSP00000402760.2:p.Met565Leu
ENST00000447841.5:c.465A>C
ENST00000461013.5:n.9043A>C
ENST00000475308.1:n.2299A>C
NM_001308122.1:c.1693A>C	NP_001295051.1:p.Met565Leu
NM_003060.3:c.1621A>C	NP_003051.1:p.Met541Leu
XM_011543590.1:c.1003A>C	XP_011541892.1:p.Met335Leu
XR_948290.1:n.1747A>C
XM_011543590.2:c.1003A>C	XP_011541892.1:p.Met335Leu
XM_017009778.2:c.1093A>C	XP_016865267.1:p.Met365Leu
XR_001742215.1:n.1876A>C
XR_001742216.1:n.1895A>C
XR_427718.2:n.1981A>C
XR_948290.2:n.1747A>C
XR_948291.2:n.1975A>C
NM_003060.4:c.1621A>C MANE Select	NP_003051.1:p.Met541Leu
NM_001308122.2:c.1693A>C	NP_001295051.1:p.Met565Leu