Canonical Allele Identifier: CA359397372
Gene: SLC45A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.33984266G>C , CM000667.2:g.33984266G>C GRCh38
NC_000005.9:g.33984371G>C , CM000667.1:g.33984371G>C GRCh37
NC_000005.8:g.34020128G>C NCBI36
NG_011691.2:g.5410C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000296589.9:c.318C>G MANE Select ENSP00000296589.4:p.Ile106Met
ENST00000296589.8:c.318C>G ENSP00000296589.4:p.Ile106Met
ENST00000382102.7:c.318C>G ENSP00000371534.3:p.Ile106Met
ENST00000505056.1:n.297C>G
ENST00000509381.1:c.318C>G ENSP00000421100.1:p.Ile106Met
NM_001012509.3:c.318C>G NP_001012527.1:p.Ile106Met
NM_001297417.2:c.318C>G NP_001284346.2:p.Ile106Met
NM_016180.4:c.318C>G NP_057264.3:p.Ile106Met
XM_011514052.1:c.318C>G XP_011512354.1:p.Ile106Met
XR_925620.1:n.879C>G
NM_016180.5:c.318C>G MANE Select NP_057264.4:p.Ile106Met
NM_001012509.4:c.318C>G NP_001012527.2:p.Ile106Met
NM_001297417.3:c.318C>G NP_001284346.2:p.Ile106Met
NM_001297417.4:c.318C>G NP_001284346.2:p.Ile106Met