Canonical Allele Identifier: CA605706965

Gene: CYP27B1

Linked Data

• dbSNP Id: rs1358694338
• gnomAD v2: 12-58157696-G-C
• gnomAD v3: 12-57763913-G-C
• gnomAD v4: 12-57763913-G-C
• MyVariant Identifiers: chr12:g.58157696G>C (hg19) ; chr12:g.57763913G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57763913G>C , CM000674.2:g.57763913G>C	GRCh38
NC_000012.11:g.58157696G>C , CM000674.1:g.58157696G>C	GRCh37
NC_000012.10:g.56443963G>C	NCBI36
NG_007076.1:g.8281C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713544.1:c.1297-105C>G	ENSP00000518840.1:n.1297-105C>G
ENST00000713545.1:c.*221-105C>G	ENSP00000518841.1:n.*221-105C>G
ENST00000228606.9:c.1216-105C>G MANE Select	ENSP00000228606.4:n.1216-105C>G
ENST00000228606.8:c.1216-105C>G	ENSP00000228606.4:n.1216-105C>G
ENST00000547344.5:n.1355-105C>G
NM_000785.3:c.1216-105C>G	NP_000776.1:n.1216-105C>G
NM_000785.4:c.1216-105C>G MANE Select	NP_000776.1:n.1216-105C>G