Canonical Allele Identifier: CA443872352
Gene: SLC45A2 HGNC NCBI

Linked Data

dbSNP Id: rs1753181153
MyVariant Identifiers: chr5:g.33984512G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.33984407G>C , CM000667.2:g.33984407G>C GRCh38
NC_000005.9:g.33984512G>C , CM000667.1:g.33984512G>C GRCh37
NC_000005.8:g.34020269G>C NCBI36
NG_011691.2:g.5269C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000296589.9:c.177C>G MANE Select ENSP00000296589.4:p.Val59=
ENST00000296589.8:c.177C>G ENSP00000296589.4:p.Val59=
ENST00000382102.7:c.177C>G ENSP00000371534.3:p.Val59=
ENST00000505056.1:n.156C>G
ENST00000509381.1:c.177C>G ENSP00000421100.1:p.Val59=
NM_001012509.3:c.177C>G NP_001012527.1:p.Val59=
NM_001297417.2:c.177C>G NP_001284346.2:p.Val59=
NM_016180.4:c.177C>G NP_057264.3:p.Val59=
XM_011514052.1:c.177C>G XP_011512354.1:p.Val59=
XR_925620.1:n.738C>G
NM_016180.5:c.177C>G MANE Select NP_057264.4:p.Val59=
NM_001012509.4:c.177C>G NP_001012527.2:p.Val59=
NM_001297417.3:c.177C>G NP_001284346.2:p.Val59=
NM_001297417.4:c.177C>G NP_001284346.2:p.Val59=