Canonical Allele Identifier: CA730486862

Gene: SLC45A3

Linked Data

• dbSNP Id: rs1475769533
• gnomAD v3: 1-205669006-G-GT
• gnomAD v4: 1-205669006-G-GT
• MyVariant Identifiers: chr1:g.205638134_205638135insT (hg19) ; chr1:g.205669006_205669007insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.205669007dup , CM000663.2:g.205669007dup	GRCh38
NC_000001.10:g.205638135dup , CM000663.1:g.205638135dup	GRCh37
NC_000001.9:g.203904758dup	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000367145.4:c.-230-4121dup MANE Select	ENSP00000356113.3:n.-230-4121dup
ENST00000367145.3:c.-230-4121dup	ENSP00000356113.3:n.-230-4121dup
NM_033102.2:c.-230-4121dup	NP_149093.1:n.-230-4121dup
XM_005245556.2:c.-231+688dup	XP_005245613.1:n.-231+688dup
XM_005245557.3:c.-230-4121dup	XP_005245614.1:n.-230-4121dup
XM_005245559.3:c.-231+2943dup	XP_005245616.1:n.-231+2943dup
XM_005245560.2:c.-230-4121dup	XP_005245617.1:n.-230-4121dup
NM_033102.3:c.-230-4121dup MANE Select	NP_149093.1:n.-230-4121dup