Canonical Allele Identifier: CA2619515205
Gene: CYP27B1 HGNC NCBI

Linked Data

gnomAD v4: 12-57764015-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57764015T>G , CM000674.2:g.57764015T>G GRCh38
NC_000012.11:g.58157798T>G , CM000674.1:g.58157798T>G GRCh37
NC_000012.10:g.56444065T>G NCBI36
NG_007076.1:g.8179A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000713544.1:c.1296+83A>C ENSP00000518840.1:n.1296+83A>C
ENST00000713545.1:c.*220+83A>C ENSP00000518841.1:n.*220+83A>C
ENST00000228606.9:c.1215+83A>C MANE Select ENSP00000228606.4:n.1215+83A>C
ENST00000228606.8:c.1215+83A>C ENSP00000228606.4:n.1215+83A>C
ENST00000547344.5:n.1354+83A>C
NM_000785.3:c.1215+83A>C NP_000776.1:n.1215+83A>C
NM_000785.4:c.1215+83A>C MANE Select NP_000776.1:n.1215+83A>C
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