Canonical Allele Identifier: CA400540842

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61555422T>C (hg19) ; chr17:g.63478061T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63478061T>C , CM000679.2:g.63478061T>C	GRCh38
NC_000017.10:g.61555422T>C , CM000679.1:g.61555422T>C	GRCh37
NC_000017.9:g.58909154T>C	NCBI36
NG_011648.1:g.5989T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.380T>C MANE Select	ENSP00000290866.4:p.Leu127Pro
ENST00000290866.9:c.380T>C	ENSP00000290866.4:p.Leu127Pro
ENST00000428043.5:c.380T>C	ENSP00000397593.2:p.Leu127Pro
ENST00000579462.1:n.405T>C
ENST00000580318.1:n.569T>C
ENST00000582627.1:c.380T>C	ENSP00000462280.1:p.Leu127Pro
ENST00000582678.5:c.380T>C	ENSP00000462995.1:p.Leu127Pro
ENST00000583336.5:n.414T>C
ENST00000584529.5:n.414T>C
NM_000789.3:c.380T>C	NP_000780.1:p.Leu127Pro
XM_005257110.1:c.-76T>C	XP_005257167.1:n.-76T>C
NM_000789.4:c.380T>C MANE Select	NP_000780.1:p.Leu127Pro
NM_001382700.1:c.145T>C	NP_001369629.1:p.Trp49Arg
NM_001382701.1:c.-235T>C	NP_001369630.1:n.-235T>C