Canonical Allele Identifier: CA360807368

Gene: SLC22A5

Linked Data

• gnomAD v4: 5-132390693-G-T
• MyVariant Identifiers: chr5:g.131726385G>T (hg19) ; chr5:g.132390693G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390693G>T , CM000667.2:g.132390693G>T	GRCh38
NC_000005.9:g.131726385G>T , CM000667.1:g.131726385G>T	GRCh37
NC_000005.8:g.131754284G>T	NCBI36
NG_008982.1:g.25985G>T
NG_008982.2:g.25990G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.897G>T	ENSP00000388838.2:p.Met299Ile
ENST00000435065.7:c.1128G>T	ENSP00000402760.2:p.Met376Ile
ENST00000448810.6:c.1053-83G>T	ENSP00000401860.2:n.1053-83G>T
ENST00000685543.1:n.1197G>T
ENST00000686757.1:c.*220G>T	ENSP00000510721.1:n.*220G>T
ENST00000687740.1:n.3741G>T
ENST00000688151.1:n.2366G>T
ENST00000689271.1:c.903G>T	ENSP00000510797.1:p.Met301Ile
ENST00000690900.1:c.*220G>T	ENSP00000510703.1:n.*220G>T
ENST00000692212.1:n.2668G>T
ENST00000692355.1:c.309G>T
ENST00000692413.1:c.1038G>T	ENSP00000509374.1:p.Met346Ile
ENST00000692825.1:c.1124G>T	ENSP00000509447.1:n.1124G>T
ENST00000693308.1:c.1104G>T	ENSP00000509770.1:p.Met368Ile
ENST00000693763.1:n.2216G>T
ENST00000245407.8:c.1056G>T MANE Select	ENSP00000245407.3:p.Met352Ile
ENST00000245407.7:c.1056G>T	ENSP00000245407.3:p.Met352Ile
ENST00000435065.6:c.1128G>T	ENSP00000402760.2:p.Met376Ile
ENST00000447841.5:c.111+1672G>T
ENST00000448810.5:c.401-83G>T
ENST00000461013.5:n.8478G>T
ENST00000475308.1:n.1734G>T
ENST00000479605.5:n.159G>T
NM_001308122.1:c.1128G>T	NP_001295051.1:p.Met376Ile
NM_003060.3:c.1056G>T	NP_003051.1:p.Met352Ile
XM_011543590.1:c.438G>T	XP_011541892.1:p.Met146Ile
XR_427718.1:n.1416G>T
XR_948290.1:n.1393+1672G>T
XR_948291.1:n.1410G>T
XM_011543590.2:c.438G>T	XP_011541892.1:p.Met146Ile
XM_017009778.2:c.528G>T	XP_016865267.1:p.Met176Ile
XR_001742215.1:n.1394-83G>T
XR_001742216.1:n.1413-83G>T
XR_427718.2:n.1416G>T
XR_948290.2:n.1393+1672G>T
XR_948291.2:n.1410G>T
NM_003060.4:c.1056G>T MANE Select	NP_003051.1:p.Met352Ile
NM_001308122.2:c.1128G>T	NP_001295051.1:p.Met376Ile