Canonical Allele Identifier: CA400539350

Gene: ACE

Linked Data

• dbSNP Id: rs1400362468
• gnomAD v2: 17-61554936-G-C
• gnomAD v3: 17-63477575-G-C
• gnomAD v4: 17-63477575-G-C
• MyVariant Identifiers: chr17:g.61554936G>C (hg19) ; chr17:g.63477575G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63477575G>C , CM000679.2:g.63477575G>C	GRCh38
NC_000017.10:g.61554936G>C , CM000679.1:g.61554936G>C	GRCh37
NC_000017.9:g.58908668G>C	NCBI36
NG_011648.1:g.5503G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.249+232G>C MANE Select	ENSP00000290866.4:n.249+232G>C
ENST00000290866.9:c.249+232G>C	ENSP00000290866.4:n.249+232G>C
ENST00000428043.5:c.249+232G>C	ENSP00000397593.2:n.249+232G>C
ENST00000579462.1:n.274+232G>C
ENST00000580318.1:n.83G>C
ENST00000582627.1:c.34G>C	ENSP00000462280.1:p.Ala12Pro
ENST00000582678.5:c.249+232G>C	ENSP00000462995.1:n.249+232G>C
ENST00000583336.5:n.283+232G>C
ENST00000584529.5:n.283+232G>C
NM_000789.3:c.249+232G>C	NP_000780.1:n.249+232G>C
XM_005257110.1:c.-207+232G>C	XP_005257167.1:n.-207+232G>C
NM_000789.4:c.249+232G>C MANE Select	NP_000780.1:n.249+232G>C
NM_001382700.1:c.14+232G>C	NP_001369629.1:n.14+232G>C
NM_001382701.1:c.-366+232G>C	NP_001369630.1:n.-366+232G>C