Canonical Allele Identifier: CA360805133

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131721115G>T (hg19) ; chr5:g.132385423G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132385423G>T , CM000667.2:g.132385423G>T	GRCh38
NC_000005.9:g.131721115G>T , CM000667.1:g.131721115G>T	GRCh37
NC_000005.8:g.131749014G>T	NCBI36
NG_008982.1:g.20715G>T
NG_008982.2:g.20720G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.665+1109G>T	ENSP00000388838.2:n.665+1109G>T
ENST00000435065.7:c.820G>T	ENSP00000402760.2:p.Ala274Ser
ENST00000448810.6:c.748G>T	ENSP00000401860.2:p.Ala250Ser
ENST00000686757.1:c.767G>T	ENSP00000510721.1:p.Cys256Phe
ENST00000687740.1:n.1908G>T
ENST00000688151.1:n.1940G>T
ENST00000689271.1:c.671+1103G>T	ENSP00000510797.1:n.671+1103G>T
ENST00000690900.1:c.719G>T	ENSP00000510703.1:p.Cys240Phe
ENST00000692212.1:n.574G>T
ENST00000692355.1:c.204+1122G>T
ENST00000692413.1:c.767G>T	ENSP00000509374.1:p.Cys256Phe
ENST00000692825.1:c.816G>T	ENSP00000509447.1:n.816G>T
ENST00000693308.1:c.761G>T	ENSP00000509770.1:p.Cys254Phe
ENST00000693763.1:n.1908G>T
ENST00000245407.8:c.748G>T MANE Select	ENSP00000245407.3:p.Ala250Ser
ENST00000245407.7:c.748G>T	ENSP00000245407.3:p.Ala250Ser
ENST00000415928.5:c.517G>T	ENSP00000388838.1:p.Ala173Ser
ENST00000435065.6:c.820G>T	ENSP00000402760.2:p.Ala274Ser
ENST00000437841.6:c.*63G>T	ENSP00000400553.1:n.*63G>T
ENST00000448810.5:c.96G>T
ENST00000461013.5:n.8170G>T
NM_001308122.1:c.820G>T	NP_001295051.1:p.Ala274Ser
NM_003060.3:c.748G>T	NP_003051.1:p.Ala250Ser
XM_011543590.1:c.130G>T	XP_011541892.1:p.Ala44Ser
XR_427718.1:n.1108G>T
XR_948290.1:n.1089G>T
XR_948291.1:n.1102G>T
XM_011543590.2:c.130G>T	XP_011541892.1:p.Ala44Ser
XM_017009778.2:c.220G>T	XP_016865267.1:p.Ala74Ser
XR_001742215.1:n.1089G>T
XR_001742216.1:n.1108G>T
XR_427718.2:n.1108G>T
XR_948290.2:n.1089G>T
XR_948291.2:n.1102G>T
NM_003060.4:c.748G>T MANE Select	NP_003051.1:p.Ala250Ser
NM_001308122.2:c.820G>T	NP_001295051.1:p.Ala274Ser