Canonical Allele Identifier: CA338162640

Gene: SLC45A1

Linked Data

• MyVariant Identifiers: chr1:g.8386024C>T (hg19) ; chr1:g.8325964C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8325964C>T , CM000663.2:g.8325964C>T	GRCh38
NC_000001.10:g.8386024C>T , CM000663.1:g.8386024C>T	GRCh37
NC_000001.9:g.8308611C>T	NCBI36
NG_034025.1:g.12880C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000471889.7:c.637C>T MANE Select	ENSP00000418096.3:p.Pro213Ser
ENST00000289877.8:c.637C>T	ENSP00000289877.8:p.Pro213Ser
ENST00000471889.5:c.739C>T	ENSP00000418096.2:p.Pro247Ser
NM_001080397.2:c.739C>T	NP_001073866.2:p.Pro247Ser
XM_011541530.1:c.739C>T	XP_011539832.1:p.Pro247Ser
XM_011541531.1:c.646C>T	XP_011539833.1:p.Pro216Ser
XM_011541530.2:c.739C>T	XP_011539832.1:p.Pro247Ser
XM_011541531.2:c.646C>T	XP_011539833.1:p.Pro216Ser
XM_024447371.1:c.646C>T	XP_024303139.1:p.Pro216Ser
XM_024447372.1:c.31C>T	XP_024303140.1:p.Pro11Ser
NM_001080397.3:c.637C>T MANE Select	NP_001073866.3:p.Pro213Ser
NM_001379614.1:c.637C>T	NP_001366543.1:p.Pro213Ser
NM_001379615.1:c.544C>T	NP_001366544.1:p.Pro182Ser
NM_001379616.1:c.544C>T	NP_001366545.1:p.Pro182Ser
NM_001379617.1:c.31C>T	NP_001366546.1:p.Pro11Ser
NM_001379618.1:c.31C>T	NP_001366547.1:p.Pro11Ser