Canonical Allele Identifier: CA446330163

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131721072G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132385380G>T , CM000667.2:g.132385380G>T	GRCh38
NC_000005.9:g.131721072G>T , CM000667.1:g.131721072G>T	GRCh37
NC_000005.8:g.131748971G>T	NCBI36
NG_008982.1:g.20672G>T
NG_008982.2:g.20677G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.665+1066G>T	ENSP00000388838.2:n.665+1066G>T
ENST00000435065.7:c.777G>T	ENSP00000402760.2:p.Val259=
ENST00000448810.6:c.705G>T	ENSP00000401860.2:p.Val235=
ENST00000686757.1:c.724G>T	ENSP00000510721.1:p.Val242Leu
ENST00000687740.1:n.1865G>T
ENST00000688151.1:n.1897G>T
ENST00000689271.1:c.671+1060G>T	ENSP00000510797.1:n.671+1060G>T
ENST00000690900.1:c.676G>T	ENSP00000510703.1:p.Val226Leu
ENST00000692212.1:n.531G>T
ENST00000692355.1:c.204+1079G>T
ENST00000692413.1:c.724G>T	ENSP00000509374.1:p.Val242Leu
ENST00000692825.1:c.773G>T	ENSP00000509447.1:n.773G>T
ENST00000693308.1:c.718G>T	ENSP00000509770.1:p.Val240Leu
ENST00000693763.1:n.1865G>T
ENST00000245407.8:c.705G>T MANE Select	ENSP00000245407.3:p.Val235=
ENST00000245407.7:c.705G>T	ENSP00000245407.3:p.Val235=
ENST00000415928.5:c.474G>T	ENSP00000388838.1:p.Val158=
ENST00000435065.6:c.777G>T	ENSP00000402760.2:p.Val259=
ENST00000437841.6:c.*20G>T	ENSP00000400553.1:n.*20G>T
ENST00000448810.5:c.53G>T
ENST00000461013.5:n.8127G>T
NM_001308122.1:c.777G>T	NP_001295051.1:p.Val259=
NM_003060.3:c.705G>T	NP_003051.1:p.Val235=
XM_011543590.1:c.87G>T	XP_011541892.1:p.Val29=
XR_427718.1:n.1065G>T
XR_948290.1:n.1046G>T
XR_948291.1:n.1059G>T
XM_011543590.2:c.87G>T	XP_011541892.1:p.Val29=
XM_017009778.2:c.177G>T	XP_016865267.1:p.Val59=
XR_001742215.1:n.1046G>T
XR_001742216.1:n.1065G>T
XR_427718.2:n.1065G>T
XR_948290.2:n.1046G>T
XR_948291.2:n.1059G>T
NM_003060.4:c.705G>T MANE Select	NP_003051.1:p.Val235=
NM_001308122.2:c.777G>T	NP_001295051.1:p.Val259=