Canonical Allele Identifier: CA2674746438

Gene: SLCO6A1

Linked Data

• gnomAD v4: 5-102390914-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.102390914C>A , CM000667.2:g.102390914C>A	GRCh38
NC_000005.9:g.101726618C>A , CM000667.1:g.101726618C>A	GRCh37
NC_000005.8:g.101754517C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000506729.6:c.1879+67G>T MANE Select	ENSP00000421339.1:n.1879+67G>T
ENST00000379807.7:c.1879+67G>T	ENSP00000369135.3:n.1879+67G>T
ENST00000389019.7:c.1693+67G>T	ENSP00000373671.3:n.1693+67G>T
ENST00000506729.5:c.1879+67G>T	ENSP00000421339.1:n.1879+67G>T
ENST00000513675.1:c.1120+67G>T	ENSP00000421990.1:n.1120+67G>T
ENST00000514765.6:n.249+67G>T
NM_001289002.1:c.1879+67G>T	NP_001275931.1:n.1879+67G>T
NM_001289004.1:c.1693+67G>T	NP_001275933.1:n.1693+67G>T
NM_001308014.1:c.1120+67G>T	NP_001294943.1:n.1120+67G>T
NM_173488.4:c.1879+67G>T	NP_775759.3:n.1879+67G>T
XM_005271874.2:c.1879+67G>T	XP_005271931.1:n.1879+67G>T
XM_011543147.1:c.1774+67G>T	XP_011541449.1:n.1774+67G>T
XM_011543148.1:c.1642+67G>T	XP_011541450.1:n.1642+67G>T
XM_011543149.1:c.1306+67G>T	XP_011541451.1:n.1306+67G>T
XM_011543150.1:c.1150+67G>T	XP_011541452.1:n.1150+67G>T
XM_011543151.1:c.1120+67G>T	XP_011541453.1:n.1120+67G>T
XM_011543153.1:c.1057+67G>T	XP_011541455.1:n.1057+67G>T
XM_005271874.3:c.1879+67G>T	XP_005271931.1:n.1879+67G>T
XM_011543147.2:c.1774+67G>T	XP_011541449.1:n.1774+67G>T
XM_011543148.2:c.1642+67G>T	XP_011541450.1:n.1642+67G>T
XM_011543153.2:c.1057+67G>T	XP_011541455.1:n.1057+67G>T
NM_001289002.2:c.1879+67G>T	NP_001275931.1:n.1879+67G>T
NM_001289004.2:c.1693+67G>T	NP_001275933.1:n.1693+67G>T
NM_001308014.2:c.1120+67G>T	NP_001294943.1:n.1120+67G>T
NM_173488.5:c.1879+67G>T MANE Select	NP_775759.3:n.1879+67G>T