Canonical Allele Identifier: CA360805162

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131721128G>T (hg19) ; chr5:g.132385436G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132385436G>T , CM000667.2:g.132385436G>T	GRCh38
NC_000005.9:g.131721128G>T , CM000667.1:g.131721128G>T	GRCh37
NC_000005.8:g.131749027G>T	NCBI36
NG_008982.1:g.20728G>T
NG_008982.2:g.20733G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.665+1122G>T	ENSP00000388838.2:n.665+1122G>T
ENST00000435065.7:c.833G>T	ENSP00000402760.2:p.Arg278Leu
ENST00000448810.6:c.761G>T	ENSP00000401860.2:p.Arg254Leu
ENST00000686757.1:c.780G>T	ENSP00000510721.1:p.Pro260=
ENST00000687740.1:n.1921G>T
ENST00000688151.1:n.1953G>T
ENST00000689271.1:c.671+1116G>T	ENSP00000510797.1:n.671+1116G>T
ENST00000690900.1:c.732G>T	ENSP00000510703.1:p.Pro244=
ENST00000692212.1:n.587G>T
ENST00000692355.1:c.204+1135G>T
ENST00000692413.1:c.780G>T	ENSP00000509374.1:p.Pro260=
ENST00000692825.1:c.829G>T	ENSP00000509447.1:n.829G>T
ENST00000693308.1:c.774G>T	ENSP00000509770.1:p.Pro258=
ENST00000693763.1:n.1921G>T
ENST00000245407.8:c.761G>T MANE Select	ENSP00000245407.3:p.Arg254Leu
ENST00000245407.7:c.761G>T	ENSP00000245407.3:p.Arg254Leu
ENST00000415928.5:c.530G>T	ENSP00000388838.1:p.Arg177Leu
ENST00000435065.6:c.833G>T	ENSP00000402760.2:p.Arg278Leu
ENST00000437841.6:c.*76G>T	ENSP00000400553.1:n.*76G>T
ENST00000448810.5:c.109G>T
ENST00000461013.5:n.8183G>T
NM_001308122.1:c.833G>T	NP_001295051.1:p.Arg278Leu
NM_003060.3:c.761G>T	NP_003051.1:p.Arg254Leu
XM_011543590.1:c.143G>T	XP_011541892.1:p.Arg48Leu
XR_427718.1:n.1121G>T
XR_948290.1:n.1102G>T
XR_948291.1:n.1115G>T
XM_011543590.2:c.143G>T	XP_011541892.1:p.Arg48Leu
XM_017009778.2:c.233G>T	XP_016865267.1:p.Arg78Leu
XR_001742215.1:n.1102G>T
XR_001742216.1:n.1121G>T
XR_427718.2:n.1121G>T
XR_948290.2:n.1102G>T
XR_948291.2:n.1115G>T
NM_003060.4:c.761G>T MANE Select	NP_003051.1:p.Arg254Leu
NM_001308122.2:c.833G>T	NP_001295051.1:p.Arg278Leu