Canonical Allele Identifier: CA985406606

Gene: ACE

Linked Data

• dbSNP Id: rs2049695317
• gnomAD v3: 17-63480845-G-T
• gnomAD v4: 17-63480845-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63480845G>T , CM000679.2:g.63480845G>T	GRCh38
NC_000017.10:g.61558206G>T , CM000679.1:g.61558206G>T	GRCh37
NC_000017.9:g.58911938G>T	NCBI36
NG_011648.1:g.8773G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.848-246G>T MANE Select	ENSP00000290866.4:n.848-246G>T
ENST00000290866.9:c.848-246G>T	ENSP00000290866.4:n.848-246G>T
ENST00000428043.5:c.848-246G>T	ENSP00000397593.2:n.848-246G>T
ENST00000582627.1:c.848-246G>T	ENSP00000462280.1:n.848-246G>T
ENST00000582678.5:c.*247-246G>T	ENSP00000462995.1:n.*247-246G>T
ENST00000584529.5:n.882-246G>T
NM_000789.3:c.848-246G>T	NP_000780.1:n.848-246G>T
XM_005257110.1:c.299-246G>T	XP_005257167.1:n.299-246G>T
NM_000789.4:c.848-246G>T MANE Select	NP_000780.1:n.848-246G>T
NM_001382700.1:c.375-246G>T	NP_001369629.1:n.375-246G>T
NM_001382701.1:c.-5-246G>T	NP_001369630.1:n.-5-246G>T