Canonical Allele Identifier: CA443659201

Gene: SLC45A2

Linked Data

• ClinVar Variation Id: 1930199
• ClinVar RCV Id: RCV002626694
• dbSNP Id: rs1298639144
• gnomAD v2: 5-33951702-A-G
• gnomAD v3: 5-33951597-A-G
• gnomAD v4: 5-33951597-A-G
• MyVariant Identifiers: chr5:g.33951702A>G (hg19) ; chr5:g.33951597A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33951597A>G , CM000667.2:g.33951597A>G	GRCh38
NC_000005.9:g.33951702A>G , CM000667.1:g.33951702A>G	GRCh37
NC_000005.8:g.33987459A>G	NCBI36
NG_011691.2:g.38079T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000296589.9:c.1113T>C MANE Select	ENSP00000296589.4:p.Cys371=
ENST00000296589.8:c.1113T>C	ENSP00000296589.4:p.Cys371=
ENST00000382102.7:c.1113T>C	ENSP00000371534.3:p.Cys371=
ENST00000509381.1:c.*55T>C	ENSP00000421100.1:n.*55T>C
ENST00000510600.1:c.588T>C	ENSP00000424010.1:p.Cys196=
NM_001012509.3:c.1113T>C	NP_001012527.1:p.Cys371=
NM_001297417.2:c.*55T>C	NP_001284346.2:n.*55T>C
NM_016180.4:c.1113T>C	NP_057264.3:p.Cys371=
XM_011514051.1:c.711T>C	XP_011512353.1:p.Cys237=
XR_925620.1:n.1930T>C
NM_016180.5:c.1113T>C MANE Select	NP_057264.4:p.Cys371=
NM_001012509.4:c.1113T>C	NP_001012527.2:p.Cys371=
NM_001297417.3:c.*55T>C	NP_001284346.2:n.*55T>C
NM_001297417.4:c.*55T>C	NP_001284346.2:n.*55T>C