Canonical Allele Identifier: CA359393486

Gene: SLC45A2

Linked Data

• gnomAD v4: 5-33963797-G-C
• MyVariant Identifiers: chr5:g.33963902G>C (hg19) ; chr5:g.33963797G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33963797G>C , CM000667.2:g.33963797G>C	GRCh38
NC_000005.9:g.33963902G>C , CM000667.1:g.33963902G>C	GRCh37
NC_000005.8:g.33999659G>C	NCBI36
NG_011691.2:g.25879C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.782C>G MANE Select	ENSP00000296589.4:p.Ser261Ter
ENST00000296589.8:c.782C>G	ENSP00000296589.4:p.Ser261Ter
ENST00000382102.7:c.782C>G	ENSP00000371534.3:p.Ser261Ter
ENST00000505056.1:n.584C>G
ENST00000509381.1:c.563-9293C>G	ENSP00000421100.1:n.563-9293C>G
ENST00000510600.1:c.257C>G	ENSP00000424010.1:p.Ser86Ter
NM_001012509.3:c.782C>G	NP_001012527.1:p.Ser261Ter
NM_001297417.2:c.563-9293C>G	NP_001284346.2:n.563-9293C>G
NM_016180.4:c.782C>G	NP_057264.3:p.Ser261Ter
XM_011514051.1:c.380C>G	XP_011512353.1:p.Ser127Ter
XM_011514052.1:c.782C>G	XP_011512354.1:p.Ser261Ter
XR_925620.1:n.1599C>G
NM_016180.5:c.782C>G MANE Select	NP_057264.4:p.Ser261Ter
NM_001012509.4:c.782C>G	NP_001012527.2:p.Ser261Ter
NM_001297417.3:c.563-9293C>G	NP_001284346.2:n.563-9293C>G
NM_001297417.4:c.563-9293C>G	NP_001284346.2:n.563-9293C>G