Canonical Allele Identifier: CA360805098

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131721099G>A (hg19) ; chr5:g.132385407G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132385407G>A , CM000667.2:g.132385407G>A	GRCh38
NC_000005.9:g.131721099G>A , CM000667.1:g.131721099G>A	GRCh37
NC_000005.8:g.131748998G>A	NCBI36
NG_008982.1:g.20699G>A
NG_008982.2:g.20704G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.665+1093G>A	ENSP00000388838.2:n.665+1093G>A
ENST00000435065.7:c.804G>A	ENSP00000402760.2:p.Met268Ile
ENST00000448810.6:c.732G>A	ENSP00000401860.2:p.Met244Ile
ENST00000686757.1:c.751G>A	ENSP00000510721.1:p.Gly251Ser
ENST00000687740.1:n.1892G>A
ENST00000688151.1:n.1924G>A
ENST00000689271.1:c.671+1087G>A	ENSP00000510797.1:n.671+1087G>A
ENST00000690900.1:c.703G>A	ENSP00000510703.1:p.Gly235Ser
ENST00000692212.1:n.558G>A
ENST00000692355.1:c.204+1106G>A
ENST00000692413.1:c.751G>A	ENSP00000509374.1:p.Gly251Ser
ENST00000692825.1:c.800G>A	ENSP00000509447.1:n.800G>A
ENST00000693308.1:c.745G>A	ENSP00000509770.1:p.Gly249Ser
ENST00000693763.1:n.1892G>A
ENST00000245407.8:c.732G>A MANE Select	ENSP00000245407.3:p.Met244Ile
ENST00000245407.7:c.732G>A	ENSP00000245407.3:p.Met244Ile
ENST00000415928.5:c.501G>A	ENSP00000388838.1:p.Met167Ile
ENST00000435065.6:c.804G>A	ENSP00000402760.2:p.Met268Ile
ENST00000437841.6:c.*47G>A	ENSP00000400553.1:n.*47G>A
ENST00000448810.5:c.80G>A
ENST00000461013.5:n.8154G>A
NM_001308122.1:c.804G>A	NP_001295051.1:p.Met268Ile
NM_003060.3:c.732G>A	NP_003051.1:p.Met244Ile
XM_011543590.1:c.114G>A	XP_011541892.1:p.Met38Ile
XR_427718.1:n.1092G>A
XR_948290.1:n.1073G>A
XR_948291.1:n.1086G>A
XM_011543590.2:c.114G>A	XP_011541892.1:p.Met38Ile
XM_017009778.2:c.204G>A	XP_016865267.1:p.Met68Ile
XR_001742215.1:n.1073G>A
XR_001742216.1:n.1092G>A
XR_427718.2:n.1092G>A
XR_948290.2:n.1073G>A
XR_948291.2:n.1086G>A
NM_003060.4:c.732G>A MANE Select	NP_003051.1:p.Met244Ile
NM_001308122.2:c.804G>A	NP_001295051.1:p.Met268Ile