Canonical Allele Identifier: CA3225674

Gene: SLC45A2

Linked Data

• ClinVar Variation Id: 904630
• ClinVar RCV Id: RCV001152651 ; RCV002070856
• dbSNP Id: rs188368977
• ExAC: 5:33963782 T / C
• gnomAD v2: 5-33963782-T-C
• gnomAD v3: 5-33963677-T-C
• gnomAD v4: 5-33963677-T-C
• MyVariant Identifiers: chr5:g.33963782T>C (hg19) ; chr5:g.33963677T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33963677T>C , CM000667.2:g.33963677T>C	GRCh38
NC_000005.9:g.33963782T>C , CM000667.1:g.33963782T>C	GRCh37
NC_000005.8:g.33999539T>C	NCBI36
NG_011691.2:g.25999A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000296589.9:c.888+14A>G MANE Select	ENSP00000296589.4:n.888+14A>G
ENST00000296589.8:c.888+14A>G	ENSP00000296589.4:n.888+14A>G
ENST00000382102.7:c.888+14A>G	ENSP00000371534.3:n.888+14A>G
ENST00000505056.1:n.704A>G
ENST00000509381.1:c.563-9173A>G	ENSP00000421100.1:n.563-9173A>G
ENST00000510600.1:c.363+14A>G	ENSP00000424010.1:n.363+14A>G
NM_001012509.3:c.888+14A>G	NP_001012527.1:n.888+14A>G
NM_001297417.2:c.563-9173A>G	NP_001284346.2:n.563-9173A>G
NM_016180.4:c.888+14A>G	NP_057264.3:n.888+14A>G
XM_011514051.1:c.486+14A>G	XP_011512353.1:n.486+14A>G
XM_011514052.1:c.888+14A>G	XP_011512354.1:n.888+14A>G
XR_925620.1:n.1705+14A>G
NM_016180.5:c.888+14A>G MANE Select	NP_057264.4:n.888+14A>G
NM_001012509.4:c.888+14A>G	NP_001012527.2:n.888+14A>G
NM_001297417.3:c.563-9173A>G	NP_001284346.2:n.563-9173A>G
NM_001297417.4:c.563-9173A>G	NP_001284346.2:n.563-9173A>G