Canonical Allele Identifier: CA359397614

Gene: SLC45A2

Linked Data

• ClinVar Variation Id: 1995079
• ClinVar RCV Id: RCV002791611
• dbSNP Id: rs752568566
• gnomAD v4: 5-33984384-C-G
• MyVariant Identifiers: chr5:g.33984489C>G (hg19) ; chr5:g.33984384C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33984384C>G , CM000667.2:g.33984384C>G	GRCh38
NC_000005.9:g.33984489C>G , CM000667.1:g.33984489C>G	GRCh37
NC_000005.8:g.34020246C>G	NCBI36
NG_011691.2:g.5292G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.200G>C MANE Select	ENSP00000296589.4:p.Ser67Thr
ENST00000296589.8:c.200G>C	ENSP00000296589.4:p.Ser67Thr
ENST00000382102.7:c.200G>C	ENSP00000371534.3:p.Ser67Thr
ENST00000505056.1:n.179G>C
ENST00000509381.1:c.200G>C	ENSP00000421100.1:p.Ser67Thr
NM_001012509.3:c.200G>C	NP_001012527.1:p.Ser67Thr
NM_001297417.2:c.200G>C	NP_001284346.2:p.Ser67Thr
NM_016180.4:c.200G>C	NP_057264.3:p.Ser67Thr
XM_011514052.1:c.200G>C	XP_011512354.1:p.Ser67Thr
XR_925620.1:n.761G>C
NM_016180.5:c.200G>C MANE Select	NP_057264.4:p.Ser67Thr
NM_001012509.4:c.200G>C	NP_001012527.2:p.Ser67Thr
NM_001297417.3:c.200G>C	NP_001284346.2:p.Ser67Thr
NM_001297417.4:c.200G>C	NP_001284346.2:p.Ser67Thr