Canonical Allele Identifier: CA360804981

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131721040T>C (hg19) ; chr5:g.132385348T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132385348T>C , CM000667.2:g.132385348T>C	GRCh38
NC_000005.9:g.131721040T>C , CM000667.1:g.131721040T>C	GRCh37
NC_000005.8:g.131748939T>C	NCBI36
NG_008982.1:g.20640T>C
NG_008982.2:g.20645T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.665+1034T>C	ENSP00000388838.2:n.665+1034T>C
ENST00000435065.7:c.745T>C	ENSP00000402760.2:p.Ser249Pro
ENST00000448810.6:c.673T>C	ENSP00000401860.2:p.Ser225Pro
ENST00000686757.1:c.692T>C	ENSP00000510721.1:p.Val231Ala
ENST00000687740.1:n.1833T>C
ENST00000688151.1:n.1865T>C
ENST00000689271.1:c.671+1028T>C	ENSP00000510797.1:n.671+1028T>C
ENST00000690900.1:c.672-28T>C	ENSP00000510703.1:n.672-28T>C
ENST00000692212.1:n.499T>C
ENST00000692355.1:c.204+1047T>C
ENST00000692413.1:c.692T>C	ENSP00000509374.1:p.Val231Ala
ENST00000692825.1:c.741T>C	ENSP00000509447.1:n.741T>C
ENST00000693308.1:c.686T>C	ENSP00000509770.1:p.Val229Ala
ENST00000693763.1:n.1833T>C
ENST00000245407.8:c.673T>C MANE Select	ENSP00000245407.3:p.Ser225Pro
ENST00000245407.7:c.673T>C	ENSP00000245407.3:p.Ser225Pro
ENST00000415928.5:c.442T>C	ENSP00000388838.1:p.Ser148Pro
ENST00000435065.6:c.745T>C	ENSP00000402760.2:p.Ser249Pro
ENST00000437841.6:c.414T>C	ENSP00000400553.1:p.Ser138=
ENST00000448810.5:c.21T>C
ENST00000461013.5:n.8095T>C
NM_001308122.1:c.745T>C	NP_001295051.1:p.Ser249Pro
NM_003060.3:c.673T>C	NP_003051.1:p.Ser225Pro
XM_011543590.1:c.55T>C	XP_011541892.1:p.Ser19Pro
XR_427718.1:n.1033T>C
XR_948290.1:n.1014T>C
XR_948291.1:n.1027T>C
XM_011543590.2:c.55T>C	XP_011541892.1:p.Ser19Pro
XM_017009778.2:c.145T>C	XP_016865267.1:p.Ser49Pro
XR_001742215.1:n.1014T>C
XR_001742216.1:n.1033T>C
XR_427718.2:n.1033T>C
XR_948290.2:n.1014T>C
XR_948291.2:n.1027T>C
NM_003060.4:c.673T>C MANE Select	NP_003051.1:p.Ser225Pro
NM_001308122.2:c.745T>C	NP_001295051.1:p.Ser249Pro