Canonical Allele Identifier: CA2038994973
Gene: CYP27B1 HGNC NCBI
METTL1 HGNC NCBI

Linked Data

dbSNP Id: rs703842
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57768956A>T , CM000674.2:g.57768956A>T GRCh38
NC_000012.11:g.58162739A>T , CM000674.1:g.58162739A>T GRCh37
NC_000012.10:g.56449006A>T NCBI36
NG_007076.1:g.3238T>A
NG_047060.1:g.8176T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000546609.2:n.31T>A (CYP27B1)
ENST00000324871.12:c.*40T>A (METTL1) MANE Select ENSP00000314441.7:n.*40T>A
ENST00000257848.7:c.*218T>A (METTL1) ENSP00000257848.7:n.*218T>A
ENST00000324871.11:c.*40T>A (METTL1) ENSP00000314441.7:n.*40T>A
ENST00000546609.1:c.31T>A (CYP27B1)
ENST00000547653.1:c.408T>A (METTL1)
NM_005371.5:c.*40T>A (METTL1) NP_005362.3:n.*40T>A
NM_023033.3:c.*218T>A (METTL1) NP_075422.3:n.*218T>A
XM_005268873.1:c.*40T>A (METTL1) XP_005268930.1:n.*40T>A
XM_005268873.2:c.*40T>A (METTL1) XP_005268930.1:n.*40T>A
NM_005371.6:c.*40T>A (METTL1) MANE Select NP_005362.3:n.*40T>A
NM_023033.4:c.*218T>A (METTL1) NP_075422.3:n.*218T>A
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