Canonical Allele Identifier: CA605706966
Gene: CYP27B1 HGNC NCBI

Linked Data

dbSNP Id: rs1205765914
gnomAD v2: 12-58157697-G-GAAGTTT
gnomAD v3: 12-57763914-G-GAAGTTT
gnomAD v4: 12-57763914-G-GAAGTTT
MyVariant Identifiers: chr12:g.58157697_58157698insAAGTTT (hg19) chr12:g.57763914_57763915insAAGTTT (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57763915_57763920dup , CM000674.2:g.57763915_57763920dup GRCh38
NC_000012.11:g.58157698_58157703dup , CM000674.1:g.58157698_58157703dup GRCh37
NC_000012.10:g.56443965_56443970dup NCBI36
NG_007076.1:g.8274_8279dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1297-112_1297-107dup ENSP00000518840.1:n.1297-112_1297-107dup
ENST00000713545.1:c.*221-112_*221-107dup ENSP00000518841.1:n.*221-112_*221-107dup
ENST00000228606.9:c.1216-112_1216-107dup MANE Select ENSP00000228606.4:n.1216-112_1216-107dup
ENST00000228606.8:c.1216-112_1216-107dup ENSP00000228606.4:n.1216-112_1216-107dup
ENST00000547344.5:n.1355-112_1355-107dup
NM_000785.3:c.1216-112_1216-107dup NP_000776.1:n.1216-112_1216-107dup
NM_000785.4:c.1216-112_1216-107dup MANE Select NP_000776.1:n.1216-112_1216-107dup
Search 100 bp 5'
Search 100 bp 3'