Canonical Allele Identifier: CA562764491

Gene: SLC22A4 MIR3936HG

Linked Data

• dbSNP Id: rs1238664211
• gnomAD v2: 5-131676342-G-GTTTTTTTTT
• MyVariant Identifiers: chr5:g.131676342_131676343insTTTTTTTTT (hg19) ; chr5:g.132340649_132340650insTTTTTTTTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132340652_132340653insTTTTTTTTT , CM000667.2:g.132340652_132340653insTTTTTTTTT	GRCh38
NC_000005.9:g.131676345_131676346insTTTTTTTTT , CM000667.1:g.131676345_131676346insTTTTTTTTT	GRCh37
NC_000005.8:g.131704244_131704245insTTTTTTTTT	NCBI36
NG_012129.1:g.51201_51202insTTTTTTTTT
NG_012129.2:g.51201_51202insTTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000200652.4:c.1532_1533insTTTTTTTTT (SLC22A4) MANE Select	ENSP00000200652.3:p.Ser510_Leu511insPhePhePhe
ENST00000200652.3:c.1532_1533insTTTTTTTTT (SLC22A4)	ENSP00000200652.3:p.Ser510_Leu511insPhePhePhe
NM_003059.2:c.1532_1533insTTTTTTTTT (SLC22A4)	NP_003050.2:p.Ser510_Leu511insPhePhePhe
NR_110997.1:n.561-5724_561-5723insAAAAAAAAA (MIR3936HG)
XM_006714675.2:c.1004_1005insTTTTTTTTT (SLC22A4)	XP_006714738.1:p.Ser334_Leu335insPhePhePhe
XM_011543589.1:c.1256_1257insTTTTTTTTT (SLC22A4)	XP_011541891.1:p.Ser418_Leu419insPhePhePhe
XM_006714675.4:c.1004_1005insTTTTTTTTT (SLC22A4)	XP_006714738.1:p.Ser334_Leu335insPhePhePhe
XM_011543589.2:c.1256_1257insTTTTTTTTT (SLC22A4)	XP_011541891.1:p.Ser418_Leu419insPhePhePhe
XM_017009776.1:c.1004_1005insTTTTTTTTT (SLC22A4)	XP_016865265.1:p.Ser334_Leu335insPhePhePhe
NM_003059.3:c.1532_1533insTTTTTTTTT (SLC22A4) MANE Select	NP_003050.2:p.Ser510_Leu511insPhePhePhe