Canonical Allele Identifier: CA627147962

Gene: ACE

Linked Data

• dbSNP Id: rs1408715092
• gnomAD v2: 17-61574470-C-T
• gnomAD v4: 17-63497109-C-T
• MyVariant Identifiers: chr17:g.61574470C>T (hg19) ; chr17:g.63497109C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497109C>T , CM000679.2:g.63497109C>T	GRCh38
NC_000017.10:g.61574470C>T , CM000679.1:g.61574470C>T	GRCh37
NC_000017.9:g.58928202C>T	NCBI36
NG_011648.1:g.25037C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3692-28C>T MANE Select	ENSP00000290866.4:n.3692-28C>T
ENST00000290863.10:c.1970-28C>T	ENSP00000290863.6:n.1970-28C>T
ENST00000290866.9:c.3692-28C>T	ENSP00000290866.4:n.3692-28C>T
ENST00000413513.7:c.1847-28C>T	ENSP00000392247.3:n.1847-28C>T
ENST00000428043.5:c.*86C>T	ENSP00000397593.2:n.*86C>T
ENST00000577418.5:n.702-28C>T
ENST00000577647.2:c.1969+124C>T	ENSP00000464149.1:n.1969+124C>T
ENST00000578839.5:c.*1447-28C>T	ENSP00000462110.2:n.*1447-28C>T
ENST00000579314.5:c.*1421-28C>T	ENSP00000462599.1:n.*1421-28C>T
ENST00000579409.1:c.502C>T
NM_000789.3:c.3692-28C>T	NP_000780.1:n.3692-28C>T
NM_001178057.1:c.1847-28C>T	NP_001171528.1:n.1847-28C>T
NM_152830.2:c.1970-28C>T	NP_690043.1:n.1970-28C>T
XM_005257110.1:c.3143-28C>T	XP_005257167.1:n.3143-28C>T
XM_006721737.2:c.2030-28C>T	XP_006721800.2:n.2030-28C>T
XM_006721737.3:c.2030-28C>T	XP_006721800.2:n.2030-28C>T
NM_000789.4:c.3692-28C>T MANE Select	NP_000780.1:n.3692-28C>T
NM_001178057.2:c.1847-28C>T	NP_001171528.1:n.1847-28C>T
NM_152830.3:c.1970-28C>T	NP_690043.1:n.1970-28C>T
NM_001382700.1:c.3125-28C>T	NP_001369629.1:n.3125-28C>T
NM_001382701.1:c.2840-28C>T	NP_001369630.1:n.2840-28C>T
NM_001382702.1:c.1307-28C>T	NP_001369631.1:n.1307-28C>T
NR_168483.1:n.2070-28C>T