Canonical Allele Identifier: CA359397497

Gene: SLC45A2

Linked Data

• ClinVar Variation Id: 1463911
• ClinVar RCV Id: RCV001956749
• dbSNP Id: rs1753173801
• gnomAD v4: 5-33984328-G-A
• MyVariant Identifiers: chr5:g.33984433G>A (hg19) ; chr5:g.33984328G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33984328G>A , CM000667.2:g.33984328G>A	GRCh38
NC_000005.9:g.33984433G>A , CM000667.1:g.33984433G>A	GRCh37
NC_000005.8:g.34020190G>A	NCBI36
NG_011691.2:g.5348C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000296589.9:c.256C>T MANE Select	ENSP00000296589.4:p.Pro86Ser
ENST00000296589.8:c.256C>T	ENSP00000296589.4:p.Pro86Ser
ENST00000382102.7:c.256C>T	ENSP00000371534.3:p.Pro86Ser
ENST00000505056.1:n.235C>T
ENST00000509381.1:c.256C>T	ENSP00000421100.1:p.Pro86Ser
NM_001012509.3:c.256C>T	NP_001012527.1:p.Pro86Ser
NM_001297417.2:c.256C>T	NP_001284346.2:p.Pro86Ser
NM_016180.4:c.256C>T	NP_057264.3:p.Pro86Ser
XM_011514052.1:c.256C>T	XP_011512354.1:p.Pro86Ser
XR_925620.1:n.817C>T
NM_016180.5:c.256C>T MANE Select	NP_057264.4:p.Pro86Ser
NM_001012509.4:c.256C>T	NP_001012527.2:p.Pro86Ser
NM_001297417.3:c.256C>T	NP_001284346.2:p.Pro86Ser
NM_001297417.4:c.256C>T	NP_001284346.2:p.Pro86Ser