Canonical Allele Identifier: CA2578282320
Gene: SLC45A2 HGNC NCBI

Linked Data

gnomAD v4: 5-33951315-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.33951315A>G , CM000667.2:g.33951315A>G GRCh38
NC_000005.9:g.33951420A>G , CM000667.1:g.33951420A>G GRCh37
NC_000005.8:g.33987177A>G NCBI36
NG_011691.2:g.38361T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000296589.9:c.1156+239T>C MANE Select ENSP00000296589.4:n.1156+239T>C
ENST00000296589.8:c.1156+239T>C ENSP00000296589.4:n.1156+239T>C
ENST00000382102.7:c.1156+239T>C ENSP00000371534.3:n.1156+239T>C
ENST00000510600.1:c.631+239T>C ENSP00000424010.1:n.631+239T>C
NM_001012509.3:c.1156+239T>C NP_001012527.1:n.1156+239T>C
NM_016180.4:c.1156+239T>C NP_057264.3:n.1156+239T>C
XM_011514051.1:c.754+239T>C XP_011512353.1:n.754+239T>C
XR_925620.1:n.1973+239T>C
NM_016180.5:c.1156+239T>C MANE Select NP_057264.4:n.1156+239T>C
NM_001012509.4:c.1156+239T>C NP_001012527.2:n.1156+239T>C
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