Canonical Allele Identifier: CA626840146

Gene: ACE

Linked Data

• dbSNP Id: rs1190825751
• gnomAD v2: 17-61558242-A-C
• gnomAD v3: 17-63480881-A-C
• gnomAD v4: 17-63480881-A-C
• MyVariant Identifiers: chr17:g.61558242A>C (hg19) ; chr17:g.63480881A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63480881A>C , CM000679.2:g.63480881A>C	GRCh38
NC_000017.10:g.61558242A>C , CM000679.1:g.61558242A>C	GRCh37
NC_000017.9:g.58911974A>C	NCBI36
NG_011648.1:g.8809A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.848-210A>C MANE Select	ENSP00000290866.4:n.848-210A>C
ENST00000290866.9:c.848-210A>C	ENSP00000290866.4:n.848-210A>C
ENST00000428043.5:c.848-210A>C	ENSP00000397593.2:n.848-210A>C
ENST00000582627.1:c.848-210A>C	ENSP00000462280.1:n.848-210A>C
ENST00000582678.5:c.*247-210A>C	ENSP00000462995.1:n.*247-210A>C
ENST00000584529.5:n.882-210A>C
NM_000789.3:c.848-210A>C	NP_000780.1:n.848-210A>C
XM_005257110.1:c.299-210A>C	XP_005257167.1:n.299-210A>C
NM_000789.4:c.848-210A>C MANE Select	NP_000780.1:n.848-210A>C
NM_001382700.1:c.375-210A>C	NP_001369629.1:n.375-210A>C
NM_001382701.1:c.-5-210A>C	NP_001369630.1:n.-5-210A>C