Canonical Allele Identifier: CA561319572

Gene: SLCO6A1

Linked Data

• dbSNP Id: rs1425714821
• gnomAD v2: 5-101727122-C-G
• gnomAD v3: 5-102391418-C-G
• gnomAD v4: 5-102391418-C-G
• MyVariant Identifiers: chr5:g.101727122C>G (hg19) ; chr5:g.102391418C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.102391418C>G , CM000667.2:g.102391418C>G	GRCh38
NC_000005.9:g.101727122C>G , CM000667.1:g.101727122C>G	GRCh37
NC_000005.8:g.101755021C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000506729.6:c.1815-373G>C MANE Select	ENSP00000421339.1:n.1815-373G>C
ENST00000379807.7:c.1815-373G>C	ENSP00000369135.3:n.1815-373G>C
ENST00000389019.7:c.1629-373G>C	ENSP00000373671.3:n.1629-373G>C
ENST00000506729.5:c.1815-373G>C	ENSP00000421339.1:n.1815-373G>C
ENST00000513675.1:c.1056-373G>C	ENSP00000421990.1:n.1056-373G>C
NM_001289002.1:c.1815-373G>C	NP_001275931.1:n.1815-373G>C
NM_001289004.1:c.1629-373G>C	NP_001275933.1:n.1629-373G>C
NM_001308014.1:c.1056-373G>C	NP_001294943.1:n.1056-373G>C
NM_173488.4:c.1815-373G>C	NP_775759.3:n.1815-373G>C
XM_005271874.2:c.1815-373G>C	XP_005271931.1:n.1815-373G>C
XM_011543147.1:c.1710-373G>C	XP_011541449.1:n.1710-373G>C
XM_011543148.1:c.1578-373G>C	XP_011541450.1:n.1578-373G>C
XM_011543149.1:c.1242-373G>C	XP_011541451.1:n.1242-373G>C
XM_011543150.1:c.1086-373G>C	XP_011541452.1:n.1086-373G>C
XM_011543151.1:c.1056-373G>C	XP_011541453.1:n.1056-373G>C
XM_011543153.1:c.993-373G>C	XP_011541455.1:n.993-373G>C
XM_005271874.3:c.1815-373G>C	XP_005271931.1:n.1815-373G>C
XM_011543147.2:c.1710-373G>C	XP_011541449.1:n.1710-373G>C
XM_011543148.2:c.1578-373G>C	XP_011541450.1:n.1578-373G>C
XM_011543153.2:c.993-373G>C	XP_011541455.1:n.993-373G>C
NM_001289002.2:c.1815-373G>C	NP_001275931.1:n.1815-373G>C
NM_001289004.2:c.1629-373G>C	NP_001275933.1:n.1629-373G>C
NM_001308014.2:c.1056-373G>C	NP_001294943.1:n.1056-373G>C
NM_173488.5:c.1815-373G>C MANE Select	NP_775759.3:n.1815-373G>C