Canonical Allele Identifier: CA360803889

Gene: SLC22A4 MIR3936HG

Linked Data

• dbSNP Id: rs1256932895
• gnomAD v2: 5-131649345-T-C
• gnomAD v4: 5-132313652-T-C
• MyVariant Identifiers: chr5:g.131649345T>C (hg19) ; chr5:g.132313652T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132313652T>C , CM000667.2:g.132313652T>C	GRCh38
NC_000005.9:g.131649345T>C , CM000667.1:g.131649345T>C	GRCh37
NC_000005.8:g.131677244T>C	NCBI36
NG_012129.1:g.24201T>C
NG_012129.2:g.24201T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000200652.4:c.536T>C (SLC22A4) MANE Select	ENSP00000200652.3:p.Val179Ala
ENST00000200652.3:c.536T>C (SLC22A4)	ENSP00000200652.3:p.Val179Ala
ENST00000491257.1:n.340T>C (SLC22A4)
NM_003059.2:c.536T>C (SLC22A4)	NP_003050.2:p.Val179Ala
NR_110997.1:n.825-1399A>G (MIR3936HG)
XM_006714675.2:c.8T>C (SLC22A4)	XP_006714738.1:p.Val3Ala
XM_011543589.1:c.432T>C (SLC22A4)	XP_011541891.1:p.Cys144=
XM_006714675.4:c.8T>C (SLC22A4)	XP_006714738.1:p.Val3Ala
XM_011543589.2:c.432T>C (SLC22A4)	XP_011541891.1:p.Cys144=
XM_017009776.1:c.8T>C (SLC22A4)	XP_016865265.1:p.Val3Ala
NM_003059.3:c.536T>C (SLC22A4) MANE Select	NP_003050.2:p.Val179Ala