Canonical Allele Identifier: CA3225677

Gene: SLC45A2

Linked Data

• ClinVar Variation Id: 1284289
• ClinVar RCV Id: RCV001701222 ; RCV001726614
• dbSNP Id: rs201038142
• ExAC: 5:33963788 A / G
• gnomAD v2: 5-33963788-A-G
• gnomAD v3: 5-33963683-A-G
• gnomAD v4: 5-33963683-A-G
• MyVariant Identifiers: chr5:g.33963788A>G (hg19) ; chr5:g.33963683A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33963683A>G , CM000667.2:g.33963683A>G	GRCh38
NC_000005.9:g.33963788A>G , CM000667.1:g.33963788A>G	GRCh37
NC_000005.8:g.33999545A>G	NCBI36
NG_011691.2:g.25993T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000296589.9:c.888+8T>C MANE Select	ENSP00000296589.4:n.888+8T>C
ENST00000296589.8:c.888+8T>C	ENSP00000296589.4:n.888+8T>C
ENST00000382102.7:c.888+8T>C	ENSP00000371534.3:n.888+8T>C
ENST00000505056.1:n.698T>C
ENST00000509381.1:c.563-9179T>C	ENSP00000421100.1:n.563-9179T>C
ENST00000510600.1:c.363+8T>C	ENSP00000424010.1:n.363+8T>C
NM_001012509.3:c.888+8T>C	NP_001012527.1:n.888+8T>C
NM_001297417.2:c.563-9179T>C	NP_001284346.2:n.563-9179T>C
NM_016180.4:c.888+8T>C	NP_057264.3:n.888+8T>C
XM_011514051.1:c.486+8T>C	XP_011512353.1:n.486+8T>C
XM_011514052.1:c.888+8T>C	XP_011512354.1:n.888+8T>C
XR_925620.1:n.1705+8T>C
NM_016180.5:c.888+8T>C MANE Select	NP_057264.4:n.888+8T>C
NM_001012509.4:c.888+8T>C	NP_001012527.2:n.888+8T>C
NM_001297417.3:c.563-9179T>C	NP_001284346.2:n.563-9179T>C
NM_001297417.4:c.563-9179T>C	NP_001284346.2:n.563-9179T>C