Canonical Allele Identifier: CA6658205
Gene: CYP27B1 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.57764205A>G
GRCh37 chr12:g.58157988A>G
gnomAD v2:
12:58157988 A / G
gnomAD v3:
12:57764205 A / G
gnomAD v4:
chr12-57764205-A-G
Joint Max Group AF 0.68880839 (EAS)
Genomes Max Group AF 0.63679966 (EAS)
Exomes Max Group AF 0.69361058 (EAS)
dbSNP:
4646536
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57764205A>G , CM000674.2:g.57764205A>G GRCh38
NC_000012.11:g.58157988A>G , CM000674.1:g.58157988A>G GRCh37
NC_000012.10:g.56444255A>G NCBI36
NG_007076.1:g.7989T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1218-29T>C ENSP00000518840.1:n.1218-29T>C
ENST00000713545.1:c.*142-29T>C ENSP00000518841.1:n.*142-29T>C
ENST00000228606.9:c.1137-29T>C MANE Select ENSP00000228606.4:n.1137-29T>C
ENST00000228606.8:c.1137-29T>C ENSP00000228606.4:n.1137-29T>C
ENST00000546567.5:c.432-29T>C ENSP00000449472.1:n.432-29T>C
ENST00000547344.5:n.1276-29T>C
NM_000785.3:c.1137-29T>C NP_000776.1:n.1137-29T>C
NM_000785.4:c.1137-29T>C MANE Select NP_000776.1:n.1137-29T>C
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