Canonical Allele Identifier: CA360809817

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131729428T>C (hg19) ; chr5:g.132393736T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132393736T>C , CM000667.2:g.132393736T>C	GRCh38
NC_000005.9:g.131729428T>C , CM000667.1:g.131729428T>C	GRCh37
NC_000005.8:g.131757327T>C	NCBI36
NG_008982.1:g.29028T>C
NG_008982.2:g.29033T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1292-449T>C	ENSP00000388838.2:n.1292-449T>C
ENST00000435065.7:c.1583T>C	ENSP00000402760.2:p.Ile528Thr
ENST00000448810.6:c.*363T>C	ENSP00000401860.2:n.*363T>C
ENST00000685543.1:n.1652T>C
ENST00000686757.1:c.*675T>C	ENSP00000510721.1:n.*675T>C
ENST00000686868.1:n.503T>C
ENST00000687740.1:n.4196T>C
ENST00000688151.1:n.2821T>C
ENST00000689271.1:c.1358T>C	ENSP00000510797.1:p.Ile453Thr
ENST00000690900.1:c.*675T>C	ENSP00000510703.1:n.*675T>C
ENST00000692212.1:n.4651T>C
ENST00000692355.1:c.764T>C
ENST00000692413.1:c.1493T>C	ENSP00000509374.1:p.Ile498Thr
ENST00000692825.1:c.1579T>C	ENSP00000509447.1:n.1579T>C
ENST00000693308.1:c.1559T>C	ENSP00000509770.1:p.Ile520Thr
ENST00000693763.1:n.2671T>C
ENST00000245407.8:c.1511T>C MANE Select	ENSP00000245407.3:p.Ile504Thr
ENST00000245407.7:c.1511T>C	ENSP00000245407.3:p.Ile504Thr
ENST00000435065.6:c.1583T>C	ENSP00000402760.2:p.Ile528Thr
ENST00000447841.5:c.355T>C
ENST00000448810.5:c.773T>C
ENST00000461013.5:n.8933T>C
ENST00000475308.1:n.2189T>C
NM_001308122.1:c.1583T>C	NP_001295051.1:p.Ile528Thr
NM_003060.3:c.1511T>C	NP_003051.1:p.Ile504Thr
XM_011543590.1:c.893T>C	XP_011541892.1:p.Ile298Thr
XR_948290.1:n.1637T>C
XM_011543590.2:c.893T>C	XP_011541892.1:p.Ile298Thr
XM_017009778.2:c.983T>C	XP_016865267.1:p.Ile328Thr
XR_001742215.1:n.1766T>C
XR_001742216.1:n.1785T>C
XR_427718.2:n.1871T>C
XR_948290.2:n.1637T>C
XR_948291.2:n.1865T>C
NM_003060.4:c.1511T>C MANE Select	NP_003051.1:p.Ile504Thr
NM_001308122.2:c.1583T>C	NP_001295051.1:p.Ile528Thr