Canonical Allele Identifier: CA528538648

Gene: SLC45A3

Linked Data

• dbSNP Id: rs1235067129
• gnomAD v2: 1-205638256-C-T
• gnomAD v3: 1-205669128-C-T
• gnomAD v4: 1-205669128-C-T
• MyVariant Identifiers: chr1:g.205638256C>T (hg19) ; chr1:g.205669128C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.205669128C>T , CM000663.2:g.205669128C>T	GRCh38
NC_000001.10:g.205638256C>T , CM000663.1:g.205638256C>T	GRCh37
NC_000001.9:g.203904879C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000367145.4:c.-230-4242G>A MANE Select	ENSP00000356113.3:n.-230-4242G>A
ENST00000367145.3:c.-230-4242G>A	ENSP00000356113.3:n.-230-4242G>A
NM_033102.2:c.-230-4242G>A	NP_149093.1:n.-230-4242G>A
XM_005245556.2:c.-231+567G>A	XP_005245613.1:n.-231+567G>A
XM_005245557.3:c.-230-4242G>A	XP_005245614.1:n.-230-4242G>A
XM_005245559.3:c.-231+2822G>A	XP_005245616.1:n.-231+2822G>A
XM_005245560.2:c.-230-4242G>A	XP_005245617.1:n.-230-4242G>A
NM_033102.3:c.-230-4242G>A MANE Select	NP_149093.1:n.-230-4242G>A