Canonical Allele Identifier: CA4084129

Gene: SLC22A1

Linked Data

• dbSNP Id: rs764431044
• ExAC: 6:160575980 C / A
• gnomAD v2: 6-160575980-C-A
• gnomAD v4: 6-160154948-C-A
• MyVariant Identifiers: chr6:g.160575980C>A (hg19) ; chr6:g.160154948C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.160154948C>A , CM000668.2:g.160154948C>A	GRCh38
NC_000006.11:g.160575980C>A , CM000668.1:g.160575980C>A	GRCh37
NC_000006.10:g.160495970C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366963.9:c.1498+38C>A MANE Select	ENSP00000355930.4:n.1498+38C>A
ENST00000324965.8:c.1386-1027C>A	ENSP00000318103.4:n.1386-1027C>A
ENST00000366963.8:c.1498+38C>A	ENSP00000355930.4:n.1498+38C>A
ENST00000457470.6:c.1386-3568C>A	ENSP00000409557.2:n.1386-3568C>A
ENST00000460902.2:c.1283+38C>A	ENSP00000439274.1:n.1283+38C>A
ENST00000539263.5:c.*971+38C>A	ENSP00000443245.1:n.*971+38C>A
NM_003057.2:c.1498+38C>A	NP_003048.1:n.1498+38C>A
NM_153187.1:c.1386-1027C>A	NP_694857.1:n.1386-1027C>A
XM_005267102.3:c.1498+38C>A	XP_005267159.1:n.1498+38C>A
XM_005267103.1:c.1498+38C>A	XP_005267160.1:n.1498+38C>A
XM_005267104.3:c.922+38C>A	XP_005267161.1:n.922+38C>A
XM_005267105.3:c.922+38C>A	XP_005267162.1:n.922+38C>A
XM_006715552.1:c.1386-3568C>A	XP_006715615.1:n.1386-3568C>A
XM_011536074.1:c.922+38C>A	XP_011534376.1:n.922+38C>A
XM_005267102.5:c.1498+38C>A	XP_005267159.1:n.1498+38C>A
XM_005267103.2:c.1498+38C>A	XP_005267160.1:n.1498+38C>A
XM_005267104.5:c.922+38C>A	XP_005267161.1:n.922+38C>A
XM_005267105.5:c.922+38C>A	XP_005267162.1:n.922+38C>A
XM_006715552.2:c.1386-3568C>A	XP_006715615.1:n.1386-3568C>A
XM_011536074.3:c.922+38C>A	XP_011534376.1:n.922+38C>A
NM_003057.3:c.1498+38C>A MANE Select	NP_003048.1:n.1498+38C>A
NM_153187.2:c.1386-1027C>A	NP_694857.1:n.1386-1027C>A