Canonical Allele Identifier: CA360804940

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131721022A>C (hg19) ; chr5:g.132385330A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132385330A>C , CM000667.2:g.132385330A>C	GRCh38
NC_000005.9:g.131721022A>C , CM000667.1:g.131721022A>C	GRCh37
NC_000005.8:g.131748921A>C	NCBI36
NG_008982.1:g.20622A>C
NG_008982.2:g.20627A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.665+1016A>C	ENSP00000388838.2:n.665+1016A>C
ENST00000435065.7:c.727A>C	ENSP00000402760.2:p.Thr243Pro
ENST00000448810.6:c.655A>C	ENSP00000401860.2:p.Thr219Pro
ENST00000686757.1:c.674A>C	ENSP00000510721.1:p.Asp225Ala
ENST00000687740.1:n.1815A>C
ENST00000688151.1:n.1847A>C
ENST00000689271.1:c.671+1010A>C	ENSP00000510797.1:n.671+1010A>C
ENST00000690900.1:c.672-46A>C	ENSP00000510703.1:n.672-46A>C
ENST00000692212.1:n.481A>C
ENST00000692355.1:c.204+1029A>C
ENST00000692413.1:c.674A>C	ENSP00000509374.1:p.Asp225Ala
ENST00000692825.1:c.723A>C	ENSP00000509447.1:n.723A>C
ENST00000693308.1:c.668A>C	ENSP00000509770.1:p.Asp223Ala
ENST00000693763.1:n.1815A>C
ENST00000245407.8:c.655A>C MANE Select	ENSP00000245407.3:p.Thr219Pro
ENST00000245407.7:c.655A>C	ENSP00000245407.3:p.Thr219Pro
ENST00000415928.5:c.424A>C	ENSP00000388838.1:p.Thr142Pro
ENST00000435065.6:c.727A>C	ENSP00000402760.2:p.Thr243Pro
ENST00000437841.6:c.396A>C	ENSP00000400553.1:p.Gly132=
ENST00000448810.5:c.3A>C
ENST00000461013.5:n.8077A>C
NM_001308122.1:c.727A>C	NP_001295051.1:p.Thr243Pro
NM_003060.3:c.655A>C	NP_003051.1:p.Thr219Pro
XM_011543590.1:c.37A>C	XP_011541892.1:p.Thr13Pro
XR_427718.1:n.1015A>C
XR_948290.1:n.996A>C
XR_948291.1:n.1009A>C
XM_011543590.2:c.37A>C	XP_011541892.1:p.Thr13Pro
XM_017009778.2:c.127A>C	XP_016865267.1:p.Thr43Pro
XR_001742215.1:n.996A>C
XR_001742216.1:n.1015A>C
XR_427718.2:n.1015A>C
XR_948290.2:n.996A>C
XR_948291.2:n.1009A>C
NM_003060.4:c.655A>C MANE Select	NP_003051.1:p.Thr219Pro
NM_001308122.2:c.727A>C	NP_001295051.1:p.Thr243Pro