Canonical Allele Identifier: CA360807750

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131726538G>T (hg19) ; chr5:g.132390846G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390846G>T , CM000667.2:g.132390846G>T	GRCh38
NC_000005.9:g.131726538G>T , CM000667.1:g.131726538G>T	GRCh37
NC_000005.8:g.131754437G>T	NCBI36
NG_008982.1:g.26138G>T
NG_008982.2:g.26143G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1050G>T	ENSP00000388838.2:p.Met350Ile
ENST00000435065.7:c.1281G>T	ENSP00000402760.2:p.Met427Ile
ENST00000448810.6:c.*61G>T	ENSP00000401860.2:n.*61G>T
ENST00000685543.1:n.1350G>T
ENST00000686757.1:c.*373G>T	ENSP00000510721.1:n.*373G>T
ENST00000687740.1:n.3894G>T
ENST00000688151.1:n.2519G>T
ENST00000689271.1:c.1056G>T	ENSP00000510797.1:p.Met352Ile
ENST00000690900.1:c.*373G>T	ENSP00000510703.1:n.*373G>T
ENST00000692212.1:n.2821G>T
ENST00000692355.1:c.462G>T
ENST00000692413.1:c.1191G>T	ENSP00000509374.1:p.Met397Ile
ENST00000692825.1:c.1277G>T	ENSP00000509447.1:n.1277G>T
ENST00000693308.1:c.1257G>T	ENSP00000509770.1:p.Met419Ile
ENST00000693763.1:n.2369G>T
ENST00000245407.8:c.1209G>T MANE Select	ENSP00000245407.3:p.Met403Ile
ENST00000245407.7:c.1209G>T	ENSP00000245407.3:p.Met403Ile
ENST00000435065.6:c.1281G>T	ENSP00000402760.2:p.Met427Ile
ENST00000447841.5:c.112-1587G>T
ENST00000448810.5:c.471G>T
ENST00000461013.5:n.8631G>T
ENST00000475308.1:n.1887G>T
ENST00000479605.5:n.312G>T
NM_001308122.1:c.1281G>T	NP_001295051.1:p.Met427Ile
NM_003060.3:c.1209G>T	NP_003051.1:p.Met403Ile
XM_011543590.1:c.591G>T	XP_011541892.1:p.Met197Ile
XR_427718.1:n.1569G>T
XR_948290.1:n.1394-1587G>T
XR_948291.1:n.1563G>T
XM_011543590.2:c.591G>T	XP_011541892.1:p.Met197Ile
XM_017009778.2:c.681G>T	XP_016865267.1:p.Met227Ile
XR_001742215.1:n.1464G>T
XR_001742216.1:n.1483G>T
XR_427718.2:n.1569G>T
XR_948290.2:n.1394-1587G>T
XR_948291.2:n.1563G>T
NM_003060.4:c.1209G>T MANE Select	NP_003051.1:p.Met403Ile
NM_001308122.2:c.1281G>T	NP_001295051.1:p.Met427Ile