Canonical Allele Identifier: CA400558067

Gene: ACE

Linked Data

• gnomAD v4: 17-63488779-G-T
• MyVariant Identifiers: chr17:g.61566140G>T (hg19) ; chr17:g.63488779G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488779G>T , CM000679.2:g.63488779G>T	GRCh38
NC_000017.10:g.61566140G>T , CM000679.1:g.61566140G>T	GRCh37
NC_000017.9:g.58919872G>T	NCBI36
NG_011648.1:g.16707G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2437G>T MANE Select	ENSP00000290866.4:p.Ala813Ser
ENST00000290863.10:c.715G>T	ENSP00000290863.6:p.Ala239Ser
ENST00000290866.9:c.2437G>T	ENSP00000290866.4:p.Ala813Ser
ENST00000413513.7:c.715G>T	ENSP00000392247.3:p.Ala239Ser
ENST00000428043.5:c.2437G>T	ENSP00000397593.2:p.Ala813Ser
ENST00000577647.2:c.715G>T	ENSP00000464149.1:p.Ala239Ser
ENST00000578839.5:c.*507G>T	ENSP00000462110.2:n.*507G>T
ENST00000579204.1:c.696G>T	ENSP00000464629.1:n.696G>T
ENST00000579314.5:c.*166G>T	ENSP00000462599.1:n.*166G>T
ENST00000582005.5:c.*357G>T	ENSP00000462002.1:n.*357G>T
ENST00000582761.1:c.205G>T	ENSP00000462909.1:p.Ala69Ser
ENST00000584865.5:n.383G>T
NM_000789.3:c.2437G>T	NP_000780.1:p.Ala813Ser
NM_001178057.1:c.715G>T	NP_001171528.1:p.Ala239Ser
NM_152830.2:c.715G>T	NP_690043.1:p.Ala239Ser
XM_005257110.1:c.1888G>T	XP_005257167.1:p.Ala630Ser
XM_006721737.2:c.775G>T	XP_006721800.2:p.Ala259Ser
XM_006721737.3:c.775G>T	XP_006721800.2:p.Ala259Ser
NM_000789.4:c.2437G>T MANE Select	NP_000780.1:p.Ala813Ser
NM_001178057.2:c.715G>T	NP_001171528.1:p.Ala239Ser
NM_152830.3:c.715G>T	NP_690043.1:p.Ala239Ser
NM_001382700.1:c.1870G>T	NP_001369629.1:p.Ala624Ser
NM_001382701.1:c.1585G>T	NP_001369630.1:p.Ala529Ser
NM_001382702.1:c.367G>T	NP_001369631.1:p.Ala123Ser
NR_168483.1:n.815G>T