Canonical Allele Identifier: CA360573982

Gene: SLCO6A1

Linked Data

• MyVariant Identifiers: chr5:g.101726727A>C (hg19) ; chr5:g.102391023A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.102391023A>C , CM000667.2:g.102391023A>C	GRCh38
NC_000005.9:g.101726727A>C , CM000667.1:g.101726727A>C	GRCh37
NC_000005.8:g.101754626A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000506729.6:c.1837T>G MANE Select	ENSP00000421339.1:p.Ser613Ala
ENST00000379807.7:c.1837T>G	ENSP00000369135.3:p.Ser613Ala
ENST00000389019.7:c.1651T>G	ENSP00000373671.3:p.Ser551Ala
ENST00000506729.5:c.1837T>G	ENSP00000421339.1:p.Ser613Ala
ENST00000513675.1:c.1078T>G	ENSP00000421990.1:p.Ser360Ala
ENST00000514765.6:n.207T>G
NM_001289002.1:c.1837T>G	NP_001275931.1:p.Ser613Ala
NM_001289004.1:c.1651T>G	NP_001275933.1:p.Ser551Ala
NM_001308014.1:c.1078T>G	NP_001294943.1:p.Ser360Ala
NM_173488.4:c.1837T>G	NP_775759.3:p.Ser613Ala
XM_005271874.2:c.1837T>G	XP_005271931.1:p.Ser613Ala
XM_011543147.1:c.1732T>G	XP_011541449.1:p.Ser578Ala
XM_011543148.1:c.1600T>G	XP_011541450.1:p.Ser534Ala
XM_011543149.1:c.1264T>G	XP_011541451.1:p.Ser422Ala
XM_011543150.1:c.1108T>G	XP_011541452.1:p.Ser370Ala
XM_011543151.1:c.1078T>G	XP_011541453.1:p.Ser360Ala
XM_011543153.1:c.1015T>G	XP_011541455.1:p.Ser339Ala
XM_005271874.3:c.1837T>G	XP_005271931.1:p.Ser613Ala
XM_011543147.2:c.1732T>G	XP_011541449.1:p.Ser578Ala
XM_011543148.2:c.1600T>G	XP_011541450.1:p.Ser534Ala
XM_011543153.2:c.1015T>G	XP_011541455.1:p.Ser339Ala
NM_001289002.2:c.1837T>G	NP_001275931.1:p.Ser613Ala
NM_001289004.2:c.1651T>G	NP_001275933.1:p.Ser551Ala
NM_001308014.2:c.1078T>G	NP_001294943.1:p.Ser360Ala
NM_173488.5:c.1837T>G MANE Select	NP_775759.3:p.Ser613Ala