Canonical Allele Identifier: CA400569602

Gene: ACE

Linked Data

• gnomAD v4: 17-63497328-C-T
• MyVariant Identifiers: chr17:g.61574689C>T (hg19) ; chr17:g.63497328C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497328C>T , CM000679.2:g.63497328C>T	GRCh38
NC_000017.10:g.61574689C>T , CM000679.1:g.61574689C>T	GRCh37
NC_000017.9:g.58928421C>T	NCBI36
NG_011648.1:g.25256C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3883C>T MANE Select	ENSP00000290866.4:p.Pro1295Ser
ENST00000290863.10:c.2161C>T	ENSP00000290863.6:p.Pro721Ser
ENST00000290866.9:c.3883C>T	ENSP00000290866.4:p.Pro1295Ser
ENST00000413513.7:c.2038C>T	ENSP00000392247.3:p.Pro680Ser
ENST00000428043.5:c.*305C>T	ENSP00000397593.2:n.*305C>T
ENST00000577647.2:c.1969+343C>T	ENSP00000464149.1:n.1969+343C>T
ENST00000578839.5:c.*1638C>T	ENSP00000462110.2:n.*1638C>T
ENST00000579314.5:c.*1612C>T	ENSP00000462599.1:n.*1612C>T
NM_000789.3:c.3883C>T	NP_000780.1:p.Pro1295Ser
NM_001178057.1:c.2038C>T	NP_001171528.1:p.Pro680Ser
NM_152830.2:c.2161C>T	NP_690043.1:p.Pro721Ser
XM_005257110.1:c.3334C>T	XP_005257167.1:p.Pro1112Ser
XM_006721737.2:c.2221C>T	XP_006721800.2:p.Pro741Ser
XM_006721737.3:c.2221C>T	XP_006721800.2:p.Pro741Ser
NM_000789.4:c.3883C>T MANE Select	NP_000780.1:p.Pro1295Ser
NM_001178057.2:c.2038C>T	NP_001171528.1:p.Pro680Ser
NM_152830.3:c.2161C>T	NP_690043.1:p.Pro721Ser
NM_001382700.1:c.3316C>T	NP_001369629.1:p.Pro1106Ser
NM_001382701.1:c.3031C>T	NP_001369630.1:p.Pro1011Ser
NM_001382702.1:c.1498C>T	NP_001369631.1:p.Pro500Ser
NR_168483.1:n.2261C>T