Canonical Allele Identifier: CA360807416

Gene: SLC22A5

Linked Data

• gnomAD v4: 5-132390704-T-C
• MyVariant Identifiers: chr5:g.131726396T>C (hg19) ; chr5:g.132390704T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390704T>C , CM000667.2:g.132390704T>C	GRCh38
NC_000005.9:g.131726396T>C , CM000667.1:g.131726396T>C	GRCh37
NC_000005.8:g.131754295T>C	NCBI36
NG_008982.1:g.25996T>C
NG_008982.2:g.26001T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.908T>C	ENSP00000388838.2:p.Val303Ala
ENST00000435065.7:c.1139T>C	ENSP00000402760.2:p.Val380Ala
ENST00000448810.6:c.1053-72T>C	ENSP00000401860.2:n.1053-72T>C
ENST00000685543.1:n.1208T>C
ENST00000686757.1:c.*231T>C	ENSP00000510721.1:n.*231T>C
ENST00000687740.1:n.3752T>C
ENST00000688151.1:n.2377T>C
ENST00000689271.1:c.914T>C	ENSP00000510797.1:p.Val305Ala
ENST00000690900.1:c.*231T>C	ENSP00000510703.1:n.*231T>C
ENST00000692212.1:n.2679T>C
ENST00000692355.1:c.320T>C
ENST00000692413.1:c.1049T>C	ENSP00000509374.1:p.Val350Ala
ENST00000692825.1:c.1135T>C	ENSP00000509447.1:n.1135T>C
ENST00000693308.1:c.1115T>C	ENSP00000509770.1:p.Val372Ala
ENST00000693763.1:n.2227T>C
ENST00000245407.8:c.1067T>C MANE Select	ENSP00000245407.3:p.Val356Ala
ENST00000245407.7:c.1067T>C	ENSP00000245407.3:p.Val356Ala
ENST00000435065.6:c.1139T>C	ENSP00000402760.2:p.Val380Ala
ENST00000447841.5:c.111+1683T>C
ENST00000448810.5:c.401-72T>C
ENST00000461013.5:n.8489T>C
ENST00000475308.1:n.1745T>C
ENST00000479605.5:n.170T>C
NM_001308122.1:c.1139T>C	NP_001295051.1:p.Val380Ala
NM_003060.3:c.1067T>C	NP_003051.1:p.Val356Ala
XM_011543590.1:c.449T>C	XP_011541892.1:p.Val150Ala
XR_427718.1:n.1427T>C
XR_948290.1:n.1393+1683T>C
XR_948291.1:n.1421T>C
XM_011543590.2:c.449T>C	XP_011541892.1:p.Val150Ala
XM_017009778.2:c.539T>C	XP_016865267.1:p.Val180Ala
XR_001742215.1:n.1394-72T>C
XR_001742216.1:n.1413-72T>C
XR_427718.2:n.1427T>C
XR_948290.2:n.1393+1683T>C
XR_948291.2:n.1421T>C
NM_003060.4:c.1067T>C MANE Select	NP_003051.1:p.Val356Ala
NM_001308122.2:c.1139T>C	NP_001295051.1:p.Val380Ala