Canonical Allele Identifier: CA400568941

Gene: ACE

Linked Data

• dbSNP Id: rs757997489
• gnomAD v2: 17-61574608-G-T
• gnomAD v4: 17-63497247-G-T
• MyVariant Identifiers: chr17:g.61574608G>T (hg19) ; chr17:g.63497247G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497247G>T , CM000679.2:g.63497247G>T	GRCh38
NC_000017.10:g.61574608G>T , CM000679.1:g.61574608G>T	GRCh37
NC_000017.9:g.58928340G>T	NCBI36
NG_011648.1:g.25175G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3802G>T MANE Select	ENSP00000290866.4:p.Ala1268Ser
ENST00000290863.10:c.2080G>T	ENSP00000290863.6:p.Ala694Ser
ENST00000290866.9:c.3802G>T	ENSP00000290866.4:p.Ala1268Ser
ENST00000413513.7:c.1957G>T	ENSP00000392247.3:p.Ala653Ser
ENST00000428043.5:c.*224G>T	ENSP00000397593.2:n.*224G>T
ENST00000577647.2:c.1969+262G>T	ENSP00000464149.1:n.1969+262G>T
ENST00000578839.5:c.*1557G>T	ENSP00000462110.2:n.*1557G>T
ENST00000579314.5:c.*1531G>T	ENSP00000462599.1:n.*1531G>T
NM_000789.3:c.3802G>T	NP_000780.1:p.Ala1268Ser
NM_001178057.1:c.1957G>T	NP_001171528.1:p.Ala653Ser
NM_152830.2:c.2080G>T	NP_690043.1:p.Ala694Ser
XM_005257110.1:c.3253G>T	XP_005257167.1:p.Ala1085Ser
XM_006721737.2:c.2140G>T	XP_006721800.2:p.Ala714Ser
XM_006721737.3:c.2140G>T	XP_006721800.2:p.Ala714Ser
NM_000789.4:c.3802G>T MANE Select	NP_000780.1:p.Ala1268Ser
NM_001178057.2:c.1957G>T	NP_001171528.1:p.Ala653Ser
NM_152830.3:c.2080G>T	NP_690043.1:p.Ala694Ser
NM_001382700.1:c.3235G>T	NP_001369629.1:p.Ala1079Ser
NM_001382701.1:c.2950G>T	NP_001369630.1:p.Ala984Ser
NM_001382702.1:c.1417G>T	NP_001369631.1:p.Ala473Ser
NR_168483.1:n.2180G>T