Canonical Allele Identifier: CA360807856

Gene: SLC22A5

Linked Data

• gnomAD v4: 5-132390899-C-A
• MyVariant Identifiers: chr5:g.131726591C>A (hg19) ; chr5:g.132390899C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390899C>A , CM000667.2:g.132390899C>A	GRCh38
NC_000005.9:g.131726591C>A , CM000667.1:g.131726591C>A	GRCh37
NC_000005.8:g.131754490C>A	NCBI36
NG_008982.1:g.26191C>A
NG_008982.2:g.26196C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1103C>A	ENSP00000388838.2:p.Pro368His
ENST00000435065.7:c.1334C>A	ENSP00000402760.2:p.Pro445His
ENST00000448810.6:c.*114C>A	ENSP00000401860.2:n.*114C>A
ENST00000685543.1:n.1403C>A
ENST00000686757.1:c.*426C>A	ENSP00000510721.1:n.*426C>A
ENST00000687740.1:n.3947C>A
ENST00000688151.1:n.2572C>A
ENST00000689271.1:c.1109C>A	ENSP00000510797.1:p.Pro370His
ENST00000690900.1:c.*426C>A	ENSP00000510703.1:n.*426C>A
ENST00000692212.1:n.2874C>A
ENST00000692355.1:c.515C>A
ENST00000692413.1:c.1244C>A	ENSP00000509374.1:p.Pro415His
ENST00000692825.1:c.1330C>A	ENSP00000509447.1:n.1330C>A
ENST00000693308.1:c.1310C>A	ENSP00000509770.1:p.Pro437His
ENST00000693763.1:n.2422C>A
ENST00000245407.8:c.1262C>A MANE Select	ENSP00000245407.3:p.Pro421His
ENST00000245407.7:c.1262C>A	ENSP00000245407.3:p.Pro421His
ENST00000435065.6:c.1334C>A	ENSP00000402760.2:p.Pro445His
ENST00000447841.5:c.112-1534C>A
ENST00000448810.5:c.524C>A
ENST00000461013.5:n.8684C>A
ENST00000475308.1:n.1940C>A
ENST00000479605.5:n.365C>A
NM_001308122.1:c.1334C>A	NP_001295051.1:p.Pro445His
NM_003060.3:c.1262C>A	NP_003051.1:p.Pro421His
XM_011543590.1:c.644C>A	XP_011541892.1:p.Pro215His
XR_427718.1:n.1622C>A
XR_948290.1:n.1394-1534C>A
XR_948291.1:n.1616C>A
XM_011543590.2:c.644C>A	XP_011541892.1:p.Pro215His
XM_017009778.2:c.734C>A	XP_016865267.1:p.Pro245His
XR_001742215.1:n.1517C>A
XR_001742216.1:n.1536C>A
XR_427718.2:n.1622C>A
XR_948290.2:n.1394-1534C>A
XR_948291.2:n.1616C>A
NM_003060.4:c.1262C>A MANE Select	NP_003051.1:p.Pro421His
NM_001308122.2:c.1334C>A	NP_001295051.1:p.Pro445His