Canonical Allele Identifier: CA3404201

Gene: SLC22A5

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132393804G>C , CM000667.2:g.132393804G>C	GRCh38
NC_000005.9:g.131729496G>C , CM000667.1:g.131729496G>C	GRCh37
NC_000005.8:g.131757395G>C	NCBI36
NG_008982.1:g.29096G>C
NG_008982.2:g.29101G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1292-381G>C	ENSP00000388838.2:n.1292-381G>C
ENST00000435065.7:c.1651G>C	ENSP00000402760.2:p.Val551Leu
ENST00000448810.6:c.*431G>C	ENSP00000401860.2:n.*431G>C
ENST00000685543.1:n.1720G>C
ENST00000686757.1:c.*743G>C	ENSP00000510721.1:n.*743G>C
ENST00000686868.1:n.571G>C
ENST00000687740.1:n.4264G>C
ENST00000688151.1:n.2889G>C
ENST00000689271.1:c.1426G>C	ENSP00000510797.1:p.Val476Leu
ENST00000690900.1:c.*743G>C	ENSP00000510703.1:n.*743G>C
ENST00000692212.1:n.4719G>C
ENST00000692355.1:c.832G>C
ENST00000692413.1:c.1561G>C	ENSP00000509374.1:p.Val521Leu
ENST00000692825.1:c.1647G>C	ENSP00000509447.1:n.1647G>C
ENST00000693308.1:c.1627G>C	ENSP00000509770.1:p.Val543Leu
ENST00000693763.1:n.2739G>C
ENST00000245407.8:c.1579G>C MANE Select	ENSP00000245407.3:p.Val527Leu
ENST00000245407.7:c.1579G>C	ENSP00000245407.3:p.Val527Leu
ENST00000435065.6:c.1651G>C	ENSP00000402760.2:p.Val551Leu
ENST00000447841.5:c.423G>C
ENST00000448810.5:c.841G>C
ENST00000461013.5:n.9001G>C
ENST00000475308.1:n.2257G>C
NM_001308122.1:c.1651G>C	NP_001295051.1:p.Val551Leu
NM_003060.3:c.1579G>C	NP_003051.1:p.Val527Leu
XM_011543590.1:c.961G>C	XP_011541892.1:p.Val321Leu
XR_948290.1:n.1705G>C
XM_011543590.2:c.961G>C	XP_011541892.1:p.Val321Leu
XM_017009778.2:c.1051G>C	XP_016865267.1:p.Val351Leu
XR_001742215.1:n.1834G>C
XR_001742216.1:n.1853G>C
XR_427718.2:n.1939G>C
XR_948290.2:n.1705G>C
XR_948291.2:n.1933G>C
NM_003060.4:c.1579G>C MANE Select	NP_003051.1:p.Val527Leu
NM_001308122.2:c.1651G>C	NP_001295051.1:p.Val551Leu