Canonical Allele Identifier: CA393147184

Gene: CYP11A1

Linked Data

• MyVariant Identifiers: chr15:g.74632045T>A (hg19) ; chr15:g.74339704T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.74339704T>A , CM000677.2:g.74339704T>A	GRCh38
NC_000015.9:g.74632045T>A , CM000677.1:g.74632045T>A	GRCh37
NC_000015.8:g.72419098T>A	NCBI36
NG_007973.1:g.33038A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268053.11:c.1040A>T MANE Select	ENSP00000268053.6:p.Lys347Met
ENST00000268053.10:c.1040A>T	ENSP00000268053.6:p.Lys347Met
ENST00000358632.8:c.566A>T	ENSP00000351455.4:p.Lys189Met
ENST00000435365.5:c.1040A>T	ENSP00000391081.1:p.Lys347Met
ENST00000566674.5:c.566A>T	ENSP00000456941.1:p.Lys189Met
NM_000781.2:c.1040A>T	NP_000772.2:p.Lys347Met
NM_001099773.1:c.566A>T	NP_001093243.1:p.Lys189Met
NM_000781.3:c.1040A>T MANE Select	NP_000772.2:p.Lys347Met
NM_001099773.2:c.566A>T	NP_001093243.1:p.Lys189Met