Canonical Allele Identifier: CA617899940
Gene: CYP19A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.51296650G>T , CM000677.2:g.51296650G>T GRCh38
NC_000015.9:g.51588847G>T , CM000677.1:g.51588847G>T GRCh37
NC_000015.8:g.49376139G>T NCBI36
NG_007982.1:g.46949C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000396402.6:c.-39+41845C>A MANE Select ENSP00000379683.1:n.-39+41845C>A
ENST00000260433.6:c.-39+27166C>A ENSP00000260433.2:n.-39+27166C>A
ENST00000396402.5:c.-39+41845C>A ENSP00000379683.1:n.-39+41845C>A
ENST00000396404.8:c.-39+27166C>A ENSP00000379685.4:n.-39+27166C>A
ENST00000405011.6:c.-193-18488C>A ENSP00000384389.2:n.-193-18488C>A
ENST00000439712.6:c.-282-40889C>A ENSP00000390614.2:n.-282-40889C>A
ENST00000453807.6:c.-229-40942C>A ENSP00000391139.2:n.-229-40942C>A
ENST00000557858.5:c.-39+41845C>A ENSP00000452627.1:n.-39+41845C>A
ENST00000557934.5:c.-39+41845C>A ENSP00000454004.1:n.-39+41845C>A
ENST00000558328.5:c.-39+41787C>A ENSP00000453280.1:n.-39+41787C>A
ENST00000559646.1:c.-39+21783C>A ENSP00000453318.1:n.-39+21783C>A
ENST00000559980.5:c.-282-40889C>A ENSP00000452872.1:n.-282-40889C>A
ENST00000561075.5:c.-39+41845C>A ENSP00000454039.1:n.-39+41845C>A
NM_000103.3:c.-39+41845C>A NP_000094.2:n.-39+41845C>A
NM_031226.2:c.-39+27166C>A NP_112503.1:n.-39+27166C>A
XM_005254191.1:c.-39+21783C>A XP_005254248.1:n.-39+21783C>A
NM_001347248.1:c.-39+27166C>A NP_001334177.1:n.-39+27166C>A
NM_001347249.1:c.-39+21783C>A NP_001334178.1:n.-39+21783C>A
NM_000103.4:c.-39+41845C>A MANE Select NP_000094.2:n.-39+41845C>A
NM_001347249.2:c.-39+21783C>A NP_001334178.1:n.-39+21783C>A
NM_031226.3:c.-39+27166C>A NP_112503.1:n.-39+27166C>A