Canonical Allele Identifier: CA360807848

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131726587G>A (hg19) ; chr5:g.132390895G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390895G>A , CM000667.2:g.132390895G>A	GRCh38
NC_000005.9:g.131726587G>A , CM000667.1:g.131726587G>A	GRCh37
NC_000005.8:g.131754486G>A	NCBI36
NG_008982.1:g.26187G>A
NG_008982.2:g.26192G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1099G>A	ENSP00000388838.2:p.Val367Ile
ENST00000435065.7:c.1330G>A	ENSP00000402760.2:p.Val444Ile
ENST00000448810.6:c.*110G>A	ENSP00000401860.2:n.*110G>A
ENST00000685543.1:n.1399G>A
ENST00000686757.1:c.*422G>A	ENSP00000510721.1:n.*422G>A
ENST00000687740.1:n.3943G>A
ENST00000688151.1:n.2568G>A
ENST00000689271.1:c.1105G>A	ENSP00000510797.1:p.Val369Ile
ENST00000690900.1:c.*422G>A	ENSP00000510703.1:n.*422G>A
ENST00000692212.1:n.2870G>A
ENST00000692355.1:c.511G>A
ENST00000692413.1:c.1240G>A	ENSP00000509374.1:p.Val414Ile
ENST00000692825.1:c.1326G>A	ENSP00000509447.1:n.1326G>A
ENST00000693308.1:c.1306G>A	ENSP00000509770.1:p.Val436Ile
ENST00000693763.1:n.2418G>A
ENST00000245407.8:c.1258G>A MANE Select	ENSP00000245407.3:p.Val420Ile
ENST00000245407.7:c.1258G>A	ENSP00000245407.3:p.Val420Ile
ENST00000435065.6:c.1330G>A	ENSP00000402760.2:p.Val444Ile
ENST00000447841.5:c.112-1538G>A
ENST00000448810.5:c.520G>A
ENST00000461013.5:n.8680G>A
ENST00000475308.1:n.1936G>A
ENST00000479605.5:n.361G>A
NM_001308122.1:c.1330G>A	NP_001295051.1:p.Val444Ile
NM_003060.3:c.1258G>A	NP_003051.1:p.Val420Ile
XM_011543590.1:c.640G>A	XP_011541892.1:p.Val214Ile
XR_427718.1:n.1618G>A
XR_948290.1:n.1394-1538G>A
XR_948291.1:n.1612G>A
XM_011543590.2:c.640G>A	XP_011541892.1:p.Val214Ile
XM_017009778.2:c.730G>A	XP_016865267.1:p.Val244Ile
XR_001742215.1:n.1513G>A
XR_001742216.1:n.1532G>A
XR_427718.2:n.1618G>A
XR_948290.2:n.1394-1538G>A
XR_948291.2:n.1612G>A
NM_003060.4:c.1258G>A MANE Select	NP_003051.1:p.Val420Ile
NM_001308122.2:c.1330G>A	NP_001295051.1:p.Val444Ile