Canonical Allele Identifier: CA2619515680
Gene: CYP27B1 HGNC NCBI

Linked Data

dbSNP Id: rs2140396493
gnomAD v4: 12-57764334-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57764334C>G , CM000674.2:g.57764334C>G GRCh38
NC_000012.11:g.58158117C>G , CM000674.1:g.58158117C>G GRCh37
NC_000012.10:g.56444384C>G NCBI36
NG_007076.1:g.7860G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1217+44G>C ENSP00000518840.1:n.1217+44G>C
ENST00000713545.1:c.*141+44G>C ENSP00000518841.1:n.*141+44G>C
ENST00000228606.9:c.1136+44G>C MANE Select ENSP00000228606.4:n.1136+44G>C
ENST00000228606.8:c.1136+44G>C ENSP00000228606.4:n.1136+44G>C
ENST00000546567.5:c.431+44G>C ENSP00000449472.1:n.431+44G>C
ENST00000547344.5:n.1275+44G>C
NM_000785.3:c.1136+44G>C NP_000776.1:n.1136+44G>C
NM_000785.4:c.1136+44G>C MANE Select NP_000776.1:n.1136+44G>C
Search 100 bp 5'
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