Canonical Allele Identifier: CA400540696

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61555353T>A (hg19) ; chr17:g.63477992T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63477992T>A , CM000679.2:g.63477992T>A	GRCh38
NC_000017.10:g.61555353T>A , CM000679.1:g.61555353T>A	GRCh37
NC_000017.9:g.58909085T>A	NCBI36
NG_011648.1:g.5920T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.311T>A MANE Select	ENSP00000290866.4:p.Leu104Gln
ENST00000290866.9:c.311T>A	ENSP00000290866.4:p.Leu104Gln
ENST00000428043.5:c.311T>A	ENSP00000397593.2:p.Leu104Gln
ENST00000579462.1:n.336T>A
ENST00000580318.1:n.500T>A
ENST00000582627.1:c.311T>A	ENSP00000462280.1:p.Leu104Gln
ENST00000582678.5:c.311T>A	ENSP00000462995.1:p.Leu104Gln
ENST00000583336.5:n.345T>A
ENST00000584529.5:n.345T>A
NM_000789.3:c.311T>A	NP_000780.1:p.Leu104Gln
XM_005257110.1:c.-145T>A	XP_005257167.1:n.-145T>A
NM_000789.4:c.311T>A MANE Select	NP_000780.1:p.Leu104Gln
NM_001382700.1:c.76T>A	NP_001369629.1:p.Cys26Ser
NM_001382701.1:c.-304T>A	NP_001369630.1:n.-304T>A