Canonical Allele Identifier: CA2840117603

Gene: SLC45A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8326060G>T , CM000663.2:g.8326060G>T	GRCh38
NC_000001.10:g.8386120G>T , CM000663.1:g.8386120G>T	GRCh37
NC_000001.9:g.8308707G>T	NCBI36
NG_034025.1:g.12976G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471889.7:c.715+18G>T MANE Select	ENSP00000418096.3:n.715+18G>T
ENST00000289877.8:c.715+18G>T	ENSP00000289877.8:n.715+18G>T
ENST00000471889.5:c.817+18G>T	ENSP00000418096.2:n.817+18G>T
NM_001080397.2:c.817+18G>T	NP_001073866.2:n.817+18G>T
XM_011541530.1:c.817+18G>T	XP_011539832.1:n.817+18G>T
XM_011541531.1:c.724+18G>T	XP_011539833.1:n.724+18G>T
XM_011541530.2:c.817+18G>T	XP_011539832.1:n.817+18G>T
XM_011541531.2:c.724+18G>T	XP_011539833.1:n.724+18G>T
XM_024447371.1:c.724+18G>T	XP_024303139.1:n.724+18G>T
XM_024447372.1:c.109+18G>T	XP_024303140.1:n.109+18G>T
NM_001080397.3:c.715+18G>T MANE Select	NP_001073866.3:n.715+18G>T
NM_001379614.1:c.715+18G>T	NP_001366543.1:n.715+18G>T
NM_001379615.1:c.622+18G>T	NP_001366544.1:n.622+18G>T
NM_001379616.1:c.622+18G>T	NP_001366545.1:n.622+18G>T
NM_001379617.1:c.109+18G>T	NP_001366546.1:n.109+18G>T
NM_001379618.1:c.109+18G>T	NP_001366547.1:n.109+18G>T