Canonical Allele Identifier: CA9915866
Gene: CYP24A1 HGNC NCBI
MyVariant.info:
GRCh38 chr20:g.54158136G>C
GRCh37 chr20:g.52774675G>C
Revel Score:
ENST00000216862 (MANE Select) 0.888
ENST00000395955 0.888
ENST00000395954 0.888
gnomAD v2:
20:52774675 G / C
gnomAD v4:
chr20-54158136-G-C
Joint Max Group AF 0.00000739 (EAS)
Exomes Max Group AF 0.00000835 (EAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.54158136G>C , CM000682.2:g.54158136G>C GRCh38
NC_000020.10:g.52774675G>C , CM000682.1:g.52774675G>C GRCh37
NC_000020.9:g.52208082G>C NCBI36
NG_008334.1:g.20842C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000216862.8:c.1186C>G MANE Select ENSP00000216862.3:p.Arg396Gly
ENST00000216862.7:c.1186C>G ENSP00000216862.3:p.Arg396Gly
ENST00000395954.3:c.760C>G ENSP00000379284.3:p.Arg254Gly
ENST00000395955.7:c.1186C>G ENSP00000379285.3:p.Arg396Gly
NM_000782.4:c.1186C>G NP_000773.2:p.Arg396Gly
NM_001128915.1:c.1186C>G NP_001122387.1:p.Arg396Gly
XM_005260304.3:c.1186C>G XP_005260361.1:p.Arg396Gly
XM_005260304.5:c.1186C>G XP_005260361.1:p.Arg396Gly
XM_017027691.2:c.1186C>G XP_016883180.1:p.Arg396Gly
XM_017027692.2:c.1186C>G XP_016883181.1:p.Arg396Gly
XM_017027693.2:c.1186C>G XP_016883182.1:p.Arg396Gly
NM_000782.5:c.1186C>G MANE Select NP_000773.2:p.Arg396Gly
NM_001128915.2:c.1186C>G NP_001122387.1:p.Arg396Gly
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