Canonical Allele Identifier: CA1591323568

Gene: SLC36A3

Linked Data

• dbSNP Id: rs1754229872

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151279502G>A , CM000667.2:g.151279502G>A	GRCh38
NC_000005.9:g.150659063G>A , CM000667.1:g.150659063G>A	GRCh37
NC_000005.8:g.150639256G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000335230.8:c.1144+1512C>T MANE Select	ENSP00000334750.3:n.1144+1512C>T
ENST00000335230.7:c.1144+1512C>T	ENSP00000334750.3:n.1144+1512C>T
ENST00000377713.3:c.1267+1512C>T	ENSP00000366942.3:n.1267+1512C>T
ENST00000423071.2:n.3044+1512C>T
NM_001145017.1:c.1267+1512C>T	NP_001138489.1:n.1267+1512C>T
NM_181774.3:c.1144+1512C>T	NP_861439.3:n.1144+1512C>T
XM_006714781.1:c.995-1841C>T	XP_006714844.1:n.995-1841C>T
XM_011537626.1:c.1138+1512C>T	XP_011535928.1:n.1138+1512C>T
XM_011537627.1:c.1066+1512C>T	XP_011535929.1:n.1066+1512C>T
XM_011537628.1:c.1000+1512C>T	XP_011535930.1:n.1000+1512C>T
XM_011537629.1:c.975-1841C>T	XP_011535931.1:n.975-1841C>T
XM_011537630.1:c.799+1512C>T	XP_011535932.1:n.799+1512C>T
XM_011537631.1:c.799+1512C>T	XP_011535933.1:n.799+1512C>T
XM_011537632.1:c.799+1512C>T	XP_011535934.1:n.799+1512C>T
XM_011537633.1:c.655+1512C>T	XP_011535935.1:n.655+1512C>T
XR_427775.1:n.1592+1512C>T
XM_011537627.3:c.1066+1512C>T	XP_011535929.1:n.1066+1512C>T
XM_011537629.3:c.975-1841C>T	XP_011535931.1:n.975-1841C>T
XM_011537630.2:c.799+1512C>T	XP_011535932.1:n.799+1512C>T
XM_011537631.2:c.799+1512C>T	XP_011535933.1:n.799+1512C>T
XR_427775.3:n.1576+1512C>T
NM_001145017.2:c.1267+1512C>T	NP_001138489.1:n.1267+1512C>T
NM_181774.4:c.1144+1512C>T MANE Select	NP_861439.3:n.1144+1512C>T