Canonical Allele Identifier: CA359387304
Gene: SLC45A2 HGNC NCBI

Linked Data

gnomAD v4: 5-33944797-T-C
MyVariant Identifiers: chr5:g.33944902T>C (hg19) chr5:g.33944797T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.33944797T>C , CM000667.2:g.33944797T>C GRCh38
NC_000005.9:g.33944902T>C , CM000667.1:g.33944902T>C GRCh37
NC_000005.8:g.33980659T>C NCBI36
NG_011691.2:g.44879A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000296589.9:c.1444A>G MANE Select ENSP00000296589.4:p.Met482Val
ENST00000296589.8:c.1444A>G ENSP00000296589.4:p.Met482Val
NM_016180.4:c.1444A>G NP_057264.3:p.Met482Val
XM_011514051.1:c.1042A>G XP_011512353.1:p.Met348Val
NM_016180.5:c.1444A>G MANE Select NP_057264.4:p.Met482Val
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Search 100 bp 3'