Canonical Allele Identifier: CA1074901875

Gene: SLC45A2

Linked Data

• dbSNP Id: rs1752247234
• gnomAD v3: 5-33955508-G-C
• gnomAD v4: 5-33955508-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33955508G>C , CM000667.2:g.33955508G>C	GRCh38
NC_000005.9:g.33955613G>C , CM000667.1:g.33955613G>C	GRCh37
NC_000005.8:g.33991370G>C	NCBI36
NG_011691.2:g.34168C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000296589.9:c.889-1004C>G MANE Select	ENSP00000296589.4:n.889-1004C>G
ENST00000296589.8:c.889-1004C>G	ENSP00000296589.4:n.889-1004C>G
ENST00000382102.7:c.889-1004C>G	ENSP00000371534.3:n.889-1004C>G
ENST00000509381.1:c.563-1004C>G	ENSP00000421100.1:n.563-1004C>G
ENST00000510600.1:c.364-1004C>G	ENSP00000424010.1:n.364-1004C>G
NM_001012509.3:c.889-1004C>G	NP_001012527.1:n.889-1004C>G
NM_001297417.2:c.563-1004C>G	NP_001284346.2:n.563-1004C>G
NM_016180.4:c.889-1004C>G	NP_057264.3:n.889-1004C>G
XM_011514051.1:c.487-1004C>G	XP_011512353.1:n.487-1004C>G
XR_925620.1:n.1706-1004C>G
NM_016180.5:c.889-1004C>G MANE Select	NP_057264.4:n.889-1004C>G
NM_001012509.4:c.889-1004C>G	NP_001012527.2:n.889-1004C>G
NM_001297417.3:c.563-1004C>G	NP_001284346.2:n.563-1004C>G
NM_001297417.4:c.563-1004C>G	NP_001284346.2:n.563-1004C>G