Canonical Allele Identifier: CA92228778

Linked Data

dbSNP Id: rs2227852
gnomAD v4: 4-9782741-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.9782741G>A , CM000666.2:g.9782741G>A GRCh38
NC_000004.11:g.9784365G>A , CM000666.1:g.9784365G>A GRCh37
NC_000004.10:g.9393463G>A NCBI36
NG_012024.1:g.6108G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000304374.4:c.712G>A (DRD5) MANE Select ENSP00000306129.2:p.Val238Ile
ENST00000304374.3:c.712G>A (DRD5) ENSP00000306129.2:p.Val238Ile
ENST00000503803.5:n.386-2676C>T (SLC2A9)
ENST00000508585.5:n.182-11372C>T (SLC2A9)
NM_000798.4:c.712G>A (DRD5) NP_000789.1:p.Val238Ile
XM_006713968.2:c.1601-2676C>T (SLC2A9) XP_006714031.1:n.1601-2676C>T
XM_011513856.1:c.1420-2676C>T (SLC2A9) XP_011512158.1:n.1420-2676C>T
XM_011513857.1:c.1333-2676C>T (SLC2A9) XP_011512159.1:n.1333-2676C>T
XM_011513858.1:c.1333-2676C>T (SLC2A9) XP_011512160.1:n.1333-2676C>T
XM_011513862.1:c.1024-2676C>T (SLC2A9) XP_011512164.1:n.1024-2676C>T
XM_011513863.1:c.1024-2676C>T (SLC2A9) XP_011512165.1:n.1024-2676C>T
XM_011513864.1:c.1012-2676C>T (SLC2A9) XP_011512166.1:n.1012-2676C>T
XM_011513867.1:c.862-2676C>T (SLC2A9) XP_011512169.1:n.862-2676C>T
XR_925341.1:n.1697-2676C>T (SLC2A9)
XM_006713968.4:c.1601-2676C>T (SLC2A9) XP_006714031.1:n.1601-2676C>T
XM_011513856.3:c.1420-2676C>T (SLC2A9) XP_011512158.1:n.1420-2676C>T
XM_011513862.3:c.1024-2676C>T (SLC2A9) XP_011512164.1:n.1024-2676C>T
XM_011513864.2:c.1012-2676C>T (SLC2A9) XP_011512166.1:n.1012-2676C>T
XM_011513867.3:c.862-2676C>T (SLC2A9) XP_011512169.1:n.862-2676C>T
XM_017008457.2:c.1601-11372C>T (SLC2A9) XP_016863946.1:n.1601-11372C>T
XM_017008459.1:c.958-2676C>T (SLC2A9) XP_016863948.1:n.958-2676C>T
XM_024454151.1:c.1033-2676C>T (SLC2A9) XP_024309919.1:n.1033-2676C>T
XR_925341.3:n.1778-2676C>T (SLC2A9)
NM_000798.5:c.712G>A (DRD5) MANE Select NP_000789.1:p.Val238Ile