Canonical Allele Identifier: CA400556215

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61564033A>C (hg19) ; chr17:g.63486672A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63486672A>C , CM000679.2:g.63486672A>C	GRCh38
NC_000017.10:g.61564033A>C , CM000679.1:g.61564033A>C	GRCh37
NC_000017.9:g.58917765A>C	NCBI36
NG_011648.1:g.14600A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2174A>C MANE Select	ENSP00000290866.4:p.Gln725Pro
ENST00000290863.10:c.452A>C	ENSP00000290863.6:p.Gln151Pro
ENST00000290866.9:c.2174A>C	ENSP00000290866.4:p.Gln725Pro
ENST00000413513.7:c.452A>C	ENSP00000392247.3:p.Gln151Pro
ENST00000428043.5:c.2174A>C	ENSP00000397593.2:p.Gln725Pro
ENST00000577647.2:c.452A>C	ENSP00000464149.1:p.Gln151Pro
ENST00000578839.5:c.*244A>C	ENSP00000462110.2:n.*244A>C
ENST00000579204.1:c.355A>C	ENSP00000464629.1:n.355A>C
ENST00000579314.5:c.452A>C	ENSP00000462599.1:p.Gln151Pro
ENST00000579726.5:c.736A>C
ENST00000582005.5:c.*94A>C	ENSP00000462002.1:n.*94A>C
NM_000789.3:c.2174A>C	NP_000780.1:p.Gln725Pro
NM_001178057.1:c.452A>C	NP_001171528.1:p.Gln151Pro
NM_152830.2:c.452A>C	NP_690043.1:p.Gln151Pro
XM_005257110.1:c.1625A>C	XP_005257167.1:p.Gln542Pro
XM_006721737.2:c.512A>C	XP_006721800.2:p.Gln171Pro
XM_006721737.3:c.512A>C	XP_006721800.2:p.Gln171Pro
NM_000789.4:c.2174A>C MANE Select	NP_000780.1:p.Gln725Pro
NM_001178057.2:c.452A>C	NP_001171528.1:p.Gln151Pro
NM_152830.3:c.452A>C	NP_690043.1:p.Gln151Pro
NM_001382700.1:c.1607A>C	NP_001369629.1:p.Gln536Pro
NM_001382701.1:c.1322A>C	NP_001369630.1:p.Gln441Pro
NM_001382702.1:c.104A>C	NP_001369631.1:p.Gln35Pro
NR_168483.1:n.474A>C