Canonical Allele Identifier: CA360807633

Gene: SLC22A5

Linked Data

• gnomAD v4: 5-132390788-T-C
• MyVariant Identifiers: chr5:g.131726480T>C (hg19) ; chr5:g.132390788T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390788T>C , CM000667.2:g.132390788T>C	GRCh38
NC_000005.9:g.131726480T>C , CM000667.1:g.131726480T>C	GRCh37
NC_000005.8:g.131754379T>C	NCBI36
NG_008982.1:g.26080T>C
NG_008982.2:g.26085T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.992T>C	ENSP00000388838.2:p.Val331Ala
ENST00000435065.7:c.1223T>C	ENSP00000402760.2:p.Val408Ala
ENST00000448810.6:c.*3T>C	ENSP00000401860.2:n.*3T>C
ENST00000685543.1:n.1292T>C
ENST00000686757.1:c.*315T>C	ENSP00000510721.1:n.*315T>C
ENST00000687740.1:n.3836T>C
ENST00000688151.1:n.2461T>C
ENST00000689271.1:c.998T>C	ENSP00000510797.1:p.Val333Ala
ENST00000690900.1:c.*315T>C	ENSP00000510703.1:n.*315T>C
ENST00000692212.1:n.2763T>C
ENST00000692355.1:c.404T>C
ENST00000692413.1:c.1133T>C	ENSP00000509374.1:p.Val378Ala
ENST00000692825.1:c.1219T>C	ENSP00000509447.1:n.1219T>C
ENST00000693308.1:c.1199T>C	ENSP00000509770.1:p.Val400Ala
ENST00000693763.1:n.2311T>C
ENST00000245407.8:c.1151T>C MANE Select	ENSP00000245407.3:p.Val384Ala
ENST00000245407.7:c.1151T>C	ENSP00000245407.3:p.Val384Ala
ENST00000435065.6:c.1223T>C	ENSP00000402760.2:p.Val408Ala
ENST00000447841.5:c.112-1645T>C
ENST00000448810.5:c.413T>C
ENST00000461013.5:n.8573T>C
ENST00000475308.1:n.1829T>C
ENST00000479605.5:n.254T>C
NM_001308122.1:c.1223T>C	NP_001295051.1:p.Val408Ala
NM_003060.3:c.1151T>C	NP_003051.1:p.Val384Ala
XM_011543590.1:c.533T>C	XP_011541892.1:p.Val178Ala
XR_427718.1:n.1511T>C
XR_948290.1:n.1394-1645T>C
XR_948291.1:n.1505T>C
XM_011543590.2:c.533T>C	XP_011541892.1:p.Val178Ala
XM_017009778.2:c.623T>C	XP_016865267.1:p.Val208Ala
XR_001742215.1:n.1406T>C
XR_001742216.1:n.1425T>C
XR_427718.2:n.1511T>C
XR_948290.2:n.1394-1645T>C
XR_948291.2:n.1505T>C
NM_003060.4:c.1151T>C MANE Select	NP_003051.1:p.Val384Ala
NM_001308122.2:c.1223T>C	NP_001295051.1:p.Val408Ala