Canonical Allele Identifier: CA415835880
Gene: SLC45A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.8386026C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.8325966C>A , CM000663.2:g.8325966C>A GRCh38
NC_000001.10:g.8386026C>A , CM000663.1:g.8386026C>A GRCh37
NC_000001.9:g.8308613C>A NCBI36
NG_034025.1:g.12882C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000471889.7:c.639C>A MANE Select ENSP00000418096.3:p.Pro213=
ENST00000289877.8:c.639C>A ENSP00000289877.8:p.Pro213=
ENST00000471889.5:c.741C>A ENSP00000418096.2:p.Pro247=
NM_001080397.2:c.741C>A NP_001073866.2:p.Pro247=
XM_011541530.1:c.741C>A XP_011539832.1:p.Pro247=
XM_011541531.1:c.648C>A XP_011539833.1:p.Pro216=
XM_011541530.2:c.741C>A XP_011539832.1:p.Pro247=
XM_011541531.2:c.648C>A XP_011539833.1:p.Pro216=
XM_024447371.1:c.648C>A XP_024303139.1:p.Pro216=
XM_024447372.1:c.33C>A XP_024303140.1:p.Pro11=
NM_001080397.3:c.639C>A MANE Select NP_001073866.3:p.Pro213=
NM_001379614.1:c.639C>A NP_001366543.1:p.Pro213=
NM_001379615.1:c.546C>A NP_001366544.1:p.Pro182=
NM_001379616.1:c.546C>A NP_001366545.1:p.Pro182=
NM_001379617.1:c.33C>A NP_001366546.1:p.Pro11=
NM_001379618.1:c.33C>A NP_001366547.1:p.Pro11=