Canonical Allele Identifier: CA3225452
Gene: SLC45A2 HGNC NCBI
ClinVar RCV:
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.33944778A>G , CM000667.2:g.33944778A>G GRCh38
NC_000005.9:g.33944883A>G , CM000667.1:g.33944883A>G GRCh37
NC_000005.8:g.33980640A>G NCBI36
NG_011691.2:g.44898T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000296589.9:c.1463T>C MANE Select ENSP00000296589.4:p.Ile488Thr
ENST00000296589.8:c.1463T>C ENSP00000296589.4:p.Ile488Thr
NM_016180.4:c.1463T>C NP_057264.3:p.Ile488Thr
XM_011514051.1:c.1061T>C XP_011512353.1:p.Ile354Thr
NM_016180.5:c.1463T>C MANE Select NP_057264.4:p.Ile488Thr