Canonical Allele Identifier: CA730487001

Gene: SLC45A3

Linked Data

• dbSNP Id: rs1176302557
• gnomAD v3: 1-205669208-G-A
• gnomAD v4: 1-205669208-G-A
• MyVariant Identifiers: chr1:g.205638336G>A (hg19) ; chr1:g.205669208G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.205669208G>A , CM000663.2:g.205669208G>A	GRCh38
NC_000001.10:g.205638336G>A , CM000663.1:g.205638336G>A	GRCh37
NC_000001.9:g.203904959G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367145.4:c.-230-4322C>T MANE Select	ENSP00000356113.3:n.-230-4322C>T
ENST00000367145.3:c.-230-4322C>T	ENSP00000356113.3:n.-230-4322C>T
NM_033102.2:c.-230-4322C>T	NP_149093.1:n.-230-4322C>T
XM_005245556.2:c.-231+487C>T	XP_005245613.1:n.-231+487C>T
XM_005245557.3:c.-230-4322C>T	XP_005245614.1:n.-230-4322C>T
XM_005245559.3:c.-231+2742C>T	XP_005245616.1:n.-231+2742C>T
XM_005245560.2:c.-230-4322C>T	XP_005245617.1:n.-230-4322C>T
NM_033102.3:c.-230-4322C>T MANE Select	NP_149093.1:n.-230-4322C>T