Canonical Allele Identifier: CA359387288
Gene: SLC45A2 HGNC NCBI

Linked Data

gnomAD v4: 5-33944794-C-T
MyVariant Identifiers: chr5:g.33944899C>T (hg19) chr5:g.33944794C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.33944794C>T , CM000667.2:g.33944794C>T GRCh38
NC_000005.9:g.33944899C>T , CM000667.1:g.33944899C>T GRCh37
NC_000005.8:g.33980656C>T NCBI36
NG_011691.2:g.44882G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000296589.9:c.1447G>A MANE Select ENSP00000296589.4:p.Val483Met
ENST00000296589.8:c.1447G>A ENSP00000296589.4:p.Val483Met
NM_016180.4:c.1447G>A NP_057264.3:p.Val483Met
XM_011514051.1:c.1045G>A XP_011512353.1:p.Val349Met
NM_016180.5:c.1447G>A MANE Select NP_057264.4:p.Val483Met
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