Canonical Allele Identifier: CA415835866
Gene: SLC45A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.8386020C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.8325960C>T , CM000663.2:g.8325960C>T GRCh38
NC_000001.10:g.8386020C>T , CM000663.1:g.8386020C>T GRCh37
NC_000001.9:g.8308607C>T NCBI36
NG_034025.1:g.12876C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000471889.7:c.633C>T MANE Select ENSP00000418096.3:p.Asp211=
ENST00000289877.8:c.633C>T ENSP00000289877.8:p.Asp211=
ENST00000471889.5:c.735C>T ENSP00000418096.2:p.Asp245=
NM_001080397.2:c.735C>T NP_001073866.2:p.Asp245=
XM_011541530.1:c.735C>T XP_011539832.1:p.Asp245=
XM_011541531.1:c.642C>T XP_011539833.1:p.Asp214=
XM_011541530.2:c.735C>T XP_011539832.1:p.Asp245=
XM_011541531.2:c.642C>T XP_011539833.1:p.Asp214=
XM_024447371.1:c.642C>T XP_024303139.1:p.Asp214=
XM_024447372.1:c.27C>T XP_024303140.1:p.Asp9=
NM_001080397.3:c.633C>T MANE Select NP_001073866.3:p.Asp211=
NM_001379614.1:c.633C>T NP_001366543.1:p.Asp211=
NM_001379615.1:c.540C>T NP_001366544.1:p.Asp180=
NM_001379616.1:c.540C>T NP_001366545.1:p.Asp180=
NM_001379617.1:c.27C>T NP_001366546.1:p.Asp9=
NM_001379618.1:c.27C>T NP_001366547.1:p.Asp9=