Canonical Allele Identifier: CA803990657

Gene: SLC22A4

Linked Data

• dbSNP Id: rs1398810932
• gnomAD v3: 5-132297681-A-C
• gnomAD v4: 5-132297681-A-C
• MyVariant Identifiers: chr5:g.131633374A>C (hg19) ; chr5:g.132297681A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132297681A>C , CM000667.2:g.132297681A>C	GRCh38
NC_000005.9:g.131633374A>C , CM000667.1:g.131633374A>C	GRCh37
NC_000005.8:g.131661273A>C	NCBI36
NG_012129.1:g.8230A>C
NG_012129.2:g.8230A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000200652.4:c.393+2672A>C MANE Select	ENSP00000200652.3:n.393+2672A>C
ENST00000200652.3:c.393+2672A>C	ENSP00000200652.3:n.393+2672A>C
ENST00000491257.1:n.197+2060A>C
NM_003059.2:c.393+2672A>C	NP_003050.2:n.393+2672A>C
XM_006714675.2:c.-32+2672A>C	XP_006714738.1:n.-32+2672A>C
XM_011543589.1:c.393+2672A>C	XP_011541891.1:n.393+2672A>C
XR_948289.1:n.1238+2060A>C
XM_006714675.4:c.-32+2672A>C	XP_006714738.1:n.-32+2672A>C
XM_011543589.2:c.393+2672A>C	XP_011541891.1:n.393+2672A>C
XM_017009776.1:c.-136+2060A>C	XP_016865265.1:n.-136+2060A>C
NM_003059.3:c.393+2672A>C MANE Select	NP_003050.2:n.393+2672A>C