Canonical Allele Identifier: CA360804979

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131721039G>T (hg19) ; chr5:g.132385347G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132385347G>T , CM000667.2:g.132385347G>T	GRCh38
NC_000005.9:g.131721039G>T , CM000667.1:g.131721039G>T	GRCh37
NC_000005.8:g.131748938G>T	NCBI36
NG_008982.1:g.20639G>T
NG_008982.2:g.20644G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.665+1033G>T	ENSP00000388838.2:n.665+1033G>T
ENST00000435065.7:c.744G>T	ENSP00000402760.2:p.Lys248Asn
ENST00000448810.6:c.672G>T	ENSP00000401860.2:p.Lys224Asn
ENST00000686757.1:c.691G>T	ENSP00000510721.1:p.Val231Phe
ENST00000687740.1:n.1832G>T
ENST00000688151.1:n.1864G>T
ENST00000689271.1:c.671+1027G>T	ENSP00000510797.1:n.671+1027G>T
ENST00000690900.1:c.672-29G>T	ENSP00000510703.1:n.672-29G>T
ENST00000692212.1:n.498G>T
ENST00000692355.1:c.204+1046G>T
ENST00000692413.1:c.691G>T	ENSP00000509374.1:p.Val231Phe
ENST00000692825.1:c.740G>T	ENSP00000509447.1:n.740G>T
ENST00000693308.1:c.685G>T	ENSP00000509770.1:p.Val229Phe
ENST00000693763.1:n.1832G>T
ENST00000245407.8:c.672G>T MANE Select	ENSP00000245407.3:p.Lys224Asn
ENST00000245407.7:c.672G>T	ENSP00000245407.3:p.Lys224Asn
ENST00000415928.5:c.441G>T	ENSP00000388838.1:p.Lys147Asn
ENST00000435065.6:c.744G>T	ENSP00000402760.2:p.Lys248Asn
ENST00000437841.6:c.413G>T	ENSP00000400553.1:p.Ser138Ile
ENST00000448810.5:c.20G>T
ENST00000461013.5:n.8094G>T
NM_001308122.1:c.744G>T	NP_001295051.1:p.Lys248Asn
NM_003060.3:c.672G>T	NP_003051.1:p.Lys224Asn
XM_011543590.1:c.54G>T	XP_011541892.1:p.Lys18Asn
XR_427718.1:n.1032G>T
XR_948290.1:n.1013G>T
XR_948291.1:n.1026G>T
XM_011543590.2:c.54G>T	XP_011541892.1:p.Lys18Asn
XM_017009778.2:c.144G>T	XP_016865267.1:p.Lys48Asn
XR_001742215.1:n.1013G>T
XR_001742216.1:n.1032G>T
XR_427718.2:n.1032G>T
XR_948290.2:n.1013G>T
XR_948291.2:n.1026G>T
NM_003060.4:c.672G>T MANE Select	NP_003051.1:p.Lys224Asn
NM_001308122.2:c.744G>T	NP_001295051.1:p.Lys248Asn