Canonical Allele Identifier: CA360805254

Gene: SLC22A5

Linked Data

• gnomAD v4: 5-132385487-T-A
• MyVariant Identifiers: chr5:g.131721179T>A (hg19) ; chr5:g.132385487T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132385487T>A , CM000667.2:g.132385487T>A	GRCh38
NC_000005.9:g.131721179T>A , CM000667.1:g.131721179T>A	GRCh37
NC_000005.8:g.131749078T>A	NCBI36
NG_008982.1:g.20779T>A
NG_008982.2:g.20784T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.665+1173T>A	ENSP00000388838.2:n.665+1173T>A
ENST00000435065.7:c.884T>A	ENSP00000402760.2:p.Val295Glu
ENST00000448810.6:c.812T>A	ENSP00000401860.2:p.Val271Glu
ENST00000686757.1:c.831T>A	ENSP00000510721.1:p.Arg277=
ENST00000687740.1:n.1972T>A
ENST00000688151.1:n.2004T>A
ENST00000689271.1:c.671+1167T>A	ENSP00000510797.1:n.671+1167T>A
ENST00000690900.1:c.783T>A	ENSP00000510703.1:p.Arg261=
ENST00000692212.1:n.638T>A
ENST00000692355.1:c.204+1186T>A
ENST00000692413.1:c.831T>A	ENSP00000509374.1:p.Arg277=
ENST00000692825.1:c.880T>A	ENSP00000509447.1:n.880T>A
ENST00000693308.1:c.825T>A	ENSP00000509770.1:p.Arg275=
ENST00000693763.1:n.1972T>A
ENST00000245407.8:c.812T>A MANE Select	ENSP00000245407.3:p.Val271Glu
ENST00000245407.7:c.812T>A	ENSP00000245407.3:p.Val271Glu
ENST00000415928.5:c.581T>A	ENSP00000388838.1:p.Val194Glu
ENST00000435065.6:c.884T>A	ENSP00000402760.2:p.Val295Glu
ENST00000437841.6:c.*127T>A	ENSP00000400553.1:n.*127T>A
ENST00000448810.5:c.160T>A
ENST00000461013.5:n.8234T>A
NM_001308122.1:c.884T>A	NP_001295051.1:p.Val295Glu
NM_003060.3:c.812T>A	NP_003051.1:p.Val271Glu
XM_011543590.1:c.194T>A	XP_011541892.1:p.Val65Glu
XR_427718.1:n.1172T>A
XR_948290.1:n.1153T>A
XR_948291.1:n.1166T>A
XM_011543590.2:c.194T>A	XP_011541892.1:p.Val65Glu
XM_017009778.2:c.284T>A	XP_016865267.1:p.Val95Glu
XR_001742215.1:n.1153T>A
XR_001742216.1:n.1172T>A
XR_427718.2:n.1172T>A
XR_948290.2:n.1153T>A
XR_948291.2:n.1166T>A
NM_003060.4:c.812T>A MANE Select	NP_003051.1:p.Val271Glu
NM_001308122.2:c.884T>A	NP_001295051.1:p.Val295Glu