Canonical Allele Identifier: CA36465170

Gene: SLC45A3

Linked Data

• dbSNP Id: rs753231649
• gnomAD v2: 1-205638130-A-G
• gnomAD v3: 1-205669002-A-G
• gnomAD v4: 1-205669002-A-G
• MyVariant Identifiers: chr1:g.205638130A>G (hg19) ; chr1:g.205669002A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.205669002A>G , CM000663.2:g.205669002A>G	GRCh38
NC_000001.10:g.205638130A>G , CM000663.1:g.205638130A>G	GRCh37
NC_000001.9:g.203904753A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000367145.4:c.-230-4116T>C MANE Select	ENSP00000356113.3:n.-230-4116T>C
ENST00000367145.3:c.-230-4116T>C	ENSP00000356113.3:n.-230-4116T>C
NM_033102.2:c.-230-4116T>C	NP_149093.1:n.-230-4116T>C
XM_005245556.2:c.-231+693T>C	XP_005245613.1:n.-231+693T>C
XM_005245557.3:c.-230-4116T>C	XP_005245614.1:n.-230-4116T>C
XM_005245559.3:c.-231+2948T>C	XP_005245616.1:n.-231+2948T>C
XM_005245560.2:c.-230-4116T>C	XP_005245617.1:n.-230-4116T>C
NM_033102.3:c.-230-4116T>C MANE Select	NP_149093.1:n.-230-4116T>C