Canonical Allele Identifier: CA116881122

Gene: SLC45A2

Linked Data

• dbSNP Id: rs990971717
• gnomAD v2: 5-33955706-T-G
• gnomAD v3: 5-33955601-T-G
• gnomAD v4: 5-33955601-T-G
• MyVariant Identifiers: chr5:g.33955706T>G (hg19) ; chr5:g.33955601T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33955601T>G , CM000667.2:g.33955601T>G	GRCh38
NC_000005.9:g.33955706T>G , CM000667.1:g.33955706T>G	GRCh37
NC_000005.8:g.33991463T>G	NCBI36
NG_011691.2:g.34075A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000296589.9:c.889-1097A>C MANE Select	ENSP00000296589.4:n.889-1097A>C
ENST00000296589.8:c.889-1097A>C	ENSP00000296589.4:n.889-1097A>C
ENST00000382102.7:c.889-1097A>C	ENSP00000371534.3:n.889-1097A>C
ENST00000509381.1:c.563-1097A>C	ENSP00000421100.1:n.563-1097A>C
ENST00000510600.1:c.364-1097A>C	ENSP00000424010.1:n.364-1097A>C
NM_001012509.3:c.889-1097A>C	NP_001012527.1:n.889-1097A>C
NM_001297417.2:c.563-1097A>C	NP_001284346.2:n.563-1097A>C
NM_016180.4:c.889-1097A>C	NP_057264.3:n.889-1097A>C
XM_011514051.1:c.487-1097A>C	XP_011512353.1:n.487-1097A>C
XR_925620.1:n.1706-1097A>C
NM_016180.5:c.889-1097A>C MANE Select	NP_057264.4:n.889-1097A>C
NM_001012509.4:c.889-1097A>C	NP_001012527.2:n.889-1097A>C
NM_001297417.3:c.563-1097A>C	NP_001284346.2:n.563-1097A>C
NM_001297417.4:c.563-1097A>C	NP_001284346.2:n.563-1097A>C