Canonical Allele Identifier: CA65833421
Gene: CYP27A1 HGNC NCBI

Linked Data

dbSNP Id: rs972146928
gnomAD v2: 2-219677510-G-C
gnomAD v4: 2-218812787-G-C
MyVariant Identifiers: chr2:g.219677510G>C (hg19) chr2:g.218812787G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218812787G>C , CM000664.2:g.218812787G>C GRCh38
NC_000002.11:g.219677510G>C , CM000664.1:g.219677510G>C GRCh37
NC_000002.10:g.219385754G>C NCBI36
NG_007959.1:g.36039G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.844+38G>C MANE Select ENSP00000258415.4:n.844+38G>C
ENST00000258415.8:c.844+38G>C ENSP00000258415.4:n.844+38G>C
ENST00000411688.1:c.562+38G>C ENSP00000392671.1:n.562+38G>C
ENST00000445971.1:c.*305+38G>C ENSP00000404945.1:n.*305+38G>C
ENST00000466602.1:n.830G>C
ENST00000494263.5:n.1278+38G>C
NM_000784.3:c.844+38G>C NP_000775.1:n.844+38G>C
XM_017003488.2:c.424+38G>C XP_016858977.1:n.424+38G>C
NM_000784.4:c.844+38G>C MANE Select NP_000775.1:n.844+38G>C
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