Canonical Allele Identifier: CA360809557

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131729370G>T (hg19) ; chr5:g.132393678G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132393678G>T , CM000667.2:g.132393678G>T	GRCh38
NC_000005.9:g.131729370G>T , CM000667.1:g.131729370G>T	GRCh37
NC_000005.8:g.131757269G>T	NCBI36
NG_008982.1:g.28970G>T
NG_008982.2:g.28975G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1292-507G>T	ENSP00000388838.2:n.1292-507G>T
ENST00000435065.7:c.1525G>T	ENSP00000402760.2:p.Ala509Ser
ENST00000448810.6:c.*305G>T	ENSP00000401860.2:n.*305G>T
ENST00000685543.1:n.1594G>T
ENST00000686757.1:c.*617G>T	ENSP00000510721.1:n.*617G>T
ENST00000686868.1:n.445G>T
ENST00000687740.1:n.4138G>T
ENST00000688151.1:n.2763G>T
ENST00000689271.1:c.1300G>T	ENSP00000510797.1:p.Ala434Ser
ENST00000690900.1:c.*617G>T	ENSP00000510703.1:n.*617G>T
ENST00000692212.1:n.4593G>T
ENST00000692355.1:c.706G>T
ENST00000692413.1:c.1435G>T	ENSP00000509374.1:p.Ala479Ser
ENST00000692825.1:c.1521G>T	ENSP00000509447.1:n.1521G>T
ENST00000693308.1:c.1501G>T	ENSP00000509770.1:p.Ala501Ser
ENST00000693763.1:n.2613G>T
ENST00000245407.8:c.1453G>T MANE Select	ENSP00000245407.3:p.Ala485Ser
ENST00000245407.7:c.1453G>T	ENSP00000245407.3:p.Ala485Ser
ENST00000435065.6:c.1525G>T	ENSP00000402760.2:p.Ala509Ser
ENST00000447841.5:c.297G>T
ENST00000448810.5:c.715G>T
ENST00000461013.5:n.8875G>T
ENST00000475308.1:n.2131G>T
ENST00000479605.5:n.556G>T
NM_001308122.1:c.1525G>T	NP_001295051.1:p.Ala509Ser
NM_003060.3:c.1453G>T	NP_003051.1:p.Ala485Ser
XM_011543590.1:c.835G>T	XP_011541892.1:p.Ala279Ser
XR_948290.1:n.1579G>T
XM_011543590.2:c.835G>T	XP_011541892.1:p.Ala279Ser
XM_017009778.2:c.925G>T	XP_016865267.1:p.Ala309Ser
XR_001742215.1:n.1708G>T
XR_001742216.1:n.1727G>T
XR_427718.2:n.1813G>T
XR_948290.2:n.1579G>T
XR_948291.2:n.1807G>T
NM_003060.4:c.1453G>T MANE Select	NP_003051.1:p.Ala485Ser
NM_001308122.2:c.1525G>T	NP_001295051.1:p.Ala509Ser