Canonical Allele Identifier: CA6658109

Gene: CYP27B1

Linked Data

• ClinVar Variation Id: 309995
• ClinVar RCV Id: RCV000321839 ; RCV001850635
• dbSNP Id: rs201629800
• ExAC: 12:58156947 T / C
• gnomAD v2: 12-58156947-T-C
• gnomAD v3: 12-57763164-T-C
• gnomAD v4: 12-57763164-T-C
• MyVariant Identifiers: chr12:g.58156947T>C (hg19) ; chr12:g.57763164T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57763164T>C , CM000674.2:g.57763164T>C	GRCh38
NC_000012.11:g.58156947T>C , CM000674.1:g.58156947T>C	GRCh37
NC_000012.10:g.56443214T>C	NCBI36
NG_007076.1:g.9030A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713544.1:c.1586A>G	ENSP00000518840.1:p.Asn529Ser
ENST00000713545.1:c.*510A>G	ENSP00000518841.1:n.*510A>G
ENST00000228606.9:c.1505A>G MANE Select	ENSP00000228606.4:p.Asn502Ser
ENST00000228606.8:c.1505A>G	ENSP00000228606.4:p.Asn502Ser
ENST00000547344.5:n.1644A>G
NM_000785.3:c.1505A>G	NP_000776.1:p.Asn502Ser
NM_000785.4:c.1505A>G MANE Select	NP_000776.1:p.Asn502Ser