Canonical Allele Identifier: CA360808680

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131728192G>C (hg19) ; chr5:g.132392500G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132392500G>C , CM000667.2:g.132392500G>C	GRCh38
NC_000005.9:g.131728192G>C , CM000667.1:g.131728192G>C	GRCh37
NC_000005.8:g.131756091G>C	NCBI36
NG_008982.1:g.27792G>C
NG_008982.2:g.27797G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.1176G>C	ENSP00000388838.2:p.Met392Ile
ENST00000435065.7:c.1407G>C	ENSP00000402760.2:p.Met469Ile
ENST00000448810.6:c.*187G>C	ENSP00000401860.2:n.*187G>C
ENST00000685543.1:n.1476G>C
ENST00000686757.1:c.*499G>C	ENSP00000510721.1:n.*499G>C
ENST00000687740.1:n.4020G>C
ENST00000688151.1:n.2645G>C
ENST00000689271.1:c.1182G>C	ENSP00000510797.1:p.Met394Ile
ENST00000690900.1:c.*499G>C	ENSP00000510703.1:n.*499G>C
ENST00000692212.1:n.4475G>C
ENST00000692355.1:c.588G>C
ENST00000692413.1:c.1317G>C	ENSP00000509374.1:p.Met439Ile
ENST00000692825.1:c.1403G>C	ENSP00000509447.1:n.1403G>C
ENST00000693308.1:c.1383G>C	ENSP00000509770.1:p.Met461Ile
ENST00000693763.1:n.2495G>C
ENST00000245407.8:c.1335G>C MANE Select	ENSP00000245407.3:p.Met445Ile
ENST00000245407.7:c.1335G>C	ENSP00000245407.3:p.Met445Ile
ENST00000435065.6:c.1407G>C	ENSP00000402760.2:p.Met469Ile
ENST00000447841.5:c.179G>C
ENST00000448810.5:c.597G>C
ENST00000461013.5:n.8757G>C
ENST00000475308.1:n.2013G>C
ENST00000479605.5:n.438G>C
NM_001308122.1:c.1407G>C	NP_001295051.1:p.Met469Ile
NM_003060.3:c.1335G>C	NP_003051.1:p.Met445Ile
XM_011543590.1:c.717G>C	XP_011541892.1:p.Met239Ile
XR_948290.1:n.1461G>C
XM_011543590.2:c.717G>C	XP_011541892.1:p.Met239Ile
XM_017009778.2:c.807G>C	XP_016865267.1:p.Met269Ile
XR_001742215.1:n.1590G>C
XR_001742216.1:n.1609G>C
XR_427718.2:n.1695G>C
XR_948290.2:n.1461G>C
XR_948291.2:n.1689G>C
NM_003060.4:c.1335G>C MANE Select	NP_003051.1:p.Met445Ile
NM_001308122.2:c.1407G>C	NP_001295051.1:p.Met469Ile