Canonical Allele Identifier: CA626846475

Gene: ACE

Linked Data

• dbSNP Id: rs1338843185
• gnomAD v2: 17-61575599-C-T
• gnomAD v3: 17-63498238-C-T
• gnomAD v4: 17-63498238-C-T
• MyVariant Identifiers: chr17:g.61575599C>T (hg19) ; chr17:g.63498238C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63498238C>T , CM000679.2:g.63498238C>T	GRCh38
NC_000017.10:g.61575599C>T , CM000679.1:g.61575599C>T	GRCh37
NC_000017.9:g.58929331C>T	NCBI36
NG_011648.1:g.26166C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.*872C>T MANE Select	ENSP00000290866.4:n.*872C>T
ENST00000290866.9:c.*872C>T	ENSP00000290866.4:n.*872C>T
ENST00000428043.5:c.*1215C>T	ENSP00000397593.2:n.*1215C>T
ENST00000577647.2:c.1969+1253C>T	ENSP00000464149.1:n.1969+1253C>T
NM_000789.3:c.*872C>T	NP_000780.1:n.*872C>T
NM_001178057.1:c.*872C>T	NP_001171528.1:n.*872C>T
NM_152830.2:c.*872C>T	NP_690043.1:n.*872C>T
XM_005257110.1:c.*872C>T	XP_005257167.1:n.*872C>T
XM_006721737.2:c.*872C>T	XP_006721800.2:n.*872C>T
NM_000789.4:c.*872C>T MANE Select	NP_000780.1:n.*872C>T
NM_001178057.2:c.*872C>T	NP_001171528.1:n.*872C>T
NM_152830.3:c.*872C>T	NP_690043.1:n.*872C>T
NM_001382700.1:c.*872C>T	NP_001369629.1:n.*872C>T
NM_001382701.1:c.*872C>T	NP_001369630.1:n.*872C>T
NM_001382702.1:c.*872C>T	NP_001369631.1:n.*872C>T
NR_168483.1:n.3171C>T