Canonical Allele Identifier: CA2604424917

Gene: SLC22A5

Linked Data

• dbSNP Id: rs2126789330
• gnomAD v3: 5-132390413-A-C
• gnomAD v4: 5-132390413-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390413A>C , CM000667.2:g.132390413A>C	GRCh38
NC_000005.9:g.131726105A>C , CM000667.1:g.131726105A>C	GRCh37
NC_000005.8:g.131754004A>C	NCBI36
NG_008982.1:g.25705A>C
NG_008982.2:g.25710A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.894-277A>C	ENSP00000388838.2:n.894-277A>C
ENST00000435065.7:c.1125-277A>C	ENSP00000402760.2:n.1125-277A>C
ENST00000448810.6:c.1053-363A>C	ENSP00000401860.2:n.1053-363A>C
ENST00000685543.1:n.1194-277A>C
ENST00000686757.1:c.*217-277A>C	ENSP00000510721.1:n.*217-277A>C
ENST00000687740.1:n.3738-277A>C
ENST00000688151.1:n.2363-277A>C
ENST00000689271.1:c.900-277A>C	ENSP00000510797.1:n.900-277A>C
ENST00000690900.1:c.*217-277A>C	ENSP00000510703.1:n.*217-277A>C
ENST00000692212.1:n.2388A>C
ENST00000692355.1:c.306-277A>C
ENST00000692413.1:c.1035-277A>C	ENSP00000509374.1:n.1035-277A>C
ENST00000692825.1:c.1121-277A>C	ENSP00000509447.1:n.1121-277A>C
ENST00000693308.1:c.1101-277A>C	ENSP00000509770.1:n.1101-277A>C
ENST00000693763.1:n.2213-277A>C
ENST00000245407.8:c.1053-277A>C MANE Select	ENSP00000245407.3:n.1053-277A>C
ENST00000245407.7:c.1053-277A>C	ENSP00000245407.3:n.1053-277A>C
ENST00000435065.6:c.1125-277A>C	ENSP00000402760.2:n.1125-277A>C
ENST00000447841.5:c.111+1392A>C
ENST00000448810.5:c.401-363A>C
ENST00000461013.5:n.8475-277A>C
ENST00000475308.1:n.1454A>C
ENST00000479605.5:n.156-277A>C
NM_001308122.1:c.1125-277A>C	NP_001295051.1:n.1125-277A>C
NM_003060.3:c.1053-277A>C	NP_003051.1:n.1053-277A>C
XM_011543590.1:c.435-277A>C	XP_011541892.1:n.435-277A>C
XR_427718.1:n.1413-277A>C
XR_948290.1:n.1393+1392A>C
XR_948291.1:n.1407-277A>C
XM_011543590.2:c.435-277A>C	XP_011541892.1:n.435-277A>C
XM_017009778.2:c.525-277A>C	XP_016865267.1:n.525-277A>C
XR_001742215.1:n.1394-363A>C
XR_001742216.1:n.1413-363A>C
XR_427718.2:n.1413-277A>C
XR_948290.2:n.1393+1392A>C
XR_948291.2:n.1407-277A>C
NM_003060.4:c.1053-277A>C MANE Select	NP_003051.1:n.1053-277A>C
NM_001308122.2:c.1125-277A>C	NP_001295051.1:n.1125-277A>C