Canonical Allele Identifier: CA627148180

Gene: ACE

Linked Data

• dbSNP Id: rs1361875079
• gnomAD v2: 17-61565951-C-T
• gnomAD v4: 17-63488590-C-T
• MyVariant Identifiers: chr17:g.61565951C>T (hg19) ; chr17:g.63488590C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488590C>T , CM000679.2:g.63488590C>T	GRCh38
NC_000017.10:g.61565951C>T , CM000679.1:g.61565951C>T	GRCh37
NC_000017.9:g.58919683C>T	NCBI36
NG_011648.1:g.16518C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000290866.10:c.2306-58C>T MANE Select	ENSP00000290866.4:n.2306-58C>T
ENST00000290863.10:c.584-58C>T	ENSP00000290863.6:n.584-58C>T
ENST00000290866.9:c.2306-58C>T	ENSP00000290866.4:n.2306-58C>T
ENST00000413513.7:c.584-58C>T	ENSP00000392247.3:n.584-58C>T
ENST00000428043.5:c.2306-58C>T	ENSP00000397593.2:n.2306-58C>T
ENST00000577647.2:c.584-58C>T	ENSP00000464149.1:n.584-58C>T
ENST00000578839.5:c.*376-58C>T	ENSP00000462110.2:n.*376-58C>T
ENST00000579204.1:c.507C>T	ENSP00000464629.1:n.507C>T
ENST00000579314.5:c.604C>T	ENSP00000462599.1:p.Pro202Ser
ENST00000582005.5:c.*226-58C>T	ENSP00000462002.1:n.*226-58C>T
ENST00000582761.1:c.74-58C>T	ENSP00000462909.1:n.74-58C>T
ENST00000584865.5:n.252-58C>T
NM_000789.3:c.2306-58C>T	NP_000780.1:n.2306-58C>T
NM_001178057.1:c.584-58C>T	NP_001171528.1:n.584-58C>T
NM_152830.2:c.584-58C>T	NP_690043.1:n.584-58C>T
XM_005257110.1:c.1757-58C>T	XP_005257167.1:n.1757-58C>T
XM_006721737.2:c.644-58C>T	XP_006721800.2:n.644-58C>T
XM_006721737.3:c.644-58C>T	XP_006721800.2:n.644-58C>T
NM_000789.4:c.2306-58C>T MANE Select	NP_000780.1:n.2306-58C>T
NM_001178057.2:c.584-58C>T	NP_001171528.1:n.584-58C>T
NM_152830.3:c.584-58C>T	NP_690043.1:n.584-58C>T
NM_001382700.1:c.1739-58C>T	NP_001369629.1:n.1739-58C>T
NM_001382701.1:c.1454-58C>T	NP_001369630.1:n.1454-58C>T
NM_001382702.1:c.236-58C>T	NP_001369631.1:n.236-58C>T
NR_168483.1:n.626C>T