Canonical Allele Identifier: CA360809050

Gene: SLC22A5

Linked Data

• dbSNP Id: rs1193551446
• gnomAD v2: 5-131728241-G-T
• gnomAD v4: 5-132392549-G-T
• MyVariant Identifiers: chr5:g.131728241G>T (hg19) ; chr5:g.132392549G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132392549G>T , CM000667.2:g.132392549G>T	GRCh38
NC_000005.9:g.131728241G>T , CM000667.1:g.131728241G>T	GRCh37
NC_000005.8:g.131756140G>T	NCBI36
NG_008982.1:g.27841G>T
NG_008982.2:g.27846G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1225G>T	ENSP00000388838.2:p.Gly409Cys
ENST00000435065.7:c.1456G>T	ENSP00000402760.2:p.Gly486Cys
ENST00000448810.6:c.*236G>T	ENSP00000401860.2:n.*236G>T
ENST00000685543.1:n.1525G>T
ENST00000686757.1:c.*548G>T	ENSP00000510721.1:n.*548G>T
ENST00000687740.1:n.4069G>T
ENST00000688151.1:n.2694G>T
ENST00000689271.1:c.1231G>T	ENSP00000510797.1:p.Gly411Cys
ENST00000690900.1:c.*548G>T	ENSP00000510703.1:n.*548G>T
ENST00000692212.1:n.4524G>T
ENST00000692355.1:c.637G>T
ENST00000692413.1:c.1366G>T	ENSP00000509374.1:p.Gly456Cys
ENST00000692825.1:c.1452G>T	ENSP00000509447.1:n.1452G>T
ENST00000693308.1:c.1432G>T	ENSP00000509770.1:p.Gly478Cys
ENST00000693763.1:n.2544G>T
ENST00000245407.8:c.1384G>T MANE Select	ENSP00000245407.3:p.Gly462Cys
ENST00000245407.7:c.1384G>T	ENSP00000245407.3:p.Gly462Cys
ENST00000435065.6:c.1456G>T	ENSP00000402760.2:p.Gly486Cys
ENST00000447841.5:c.228G>T
ENST00000448810.5:c.646G>T
ENST00000461013.5:n.8806G>T
ENST00000475308.1:n.2062G>T
ENST00000479605.5:n.487G>T
NM_001308122.1:c.1456G>T	NP_001295051.1:p.Gly486Cys
NM_003060.3:c.1384G>T	NP_003051.1:p.Gly462Cys
XM_011543590.1:c.766G>T	XP_011541892.1:p.Gly256Cys
XR_948290.1:n.1510G>T
XM_011543590.2:c.766G>T	XP_011541892.1:p.Gly256Cys
XM_017009778.2:c.856G>T	XP_016865267.1:p.Gly286Cys
XR_001742215.1:n.1639G>T
XR_001742216.1:n.1658G>T
XR_427718.2:n.1744G>T
XR_948290.2:n.1510G>T
XR_948291.2:n.1738G>T
NM_003060.4:c.1384G>T MANE Select	NP_003051.1:p.Gly462Cys
NM_001308122.2:c.1456G>T	NP_001295051.1:p.Gly486Cys