Canonical Allele Identifier: CA292874192

Gene: ACE

Linked Data

• dbSNP Id: rs536139946
• gnomAD v3: 17-63480787-T-C
• gnomAD v4: 17-63480787-T-C
• MyVariant Identifiers: chr17:g.61558148T>C (hg19) ; chr17:g.63480787T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63480787T>C , CM000679.2:g.63480787T>C	GRCh38
NC_000017.10:g.61558148T>C , CM000679.1:g.61558148T>C	GRCh37
NC_000017.9:g.58911880T>C	NCBI36
NG_011648.1:g.8715T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000290866.10:c.847+259T>C MANE Select	ENSP00000290866.4:n.847+259T>C
ENST00000290866.9:c.847+259T>C	ENSP00000290866.4:n.847+259T>C
ENST00000428043.5:c.847+259T>C	ENSP00000397593.2:n.847+259T>C
ENST00000582627.1:c.847+259T>C	ENSP00000462280.1:n.847+259T>C
ENST00000582678.5:c.*246+259T>C	ENSP00000462995.1:n.*246+259T>C
ENST00000584529.5:n.881+259T>C
NM_000789.3:c.847+259T>C	NP_000780.1:n.847+259T>C
XM_005257110.1:c.298+259T>C	XP_005257167.1:n.298+259T>C
NM_000789.4:c.847+259T>C MANE Select	NP_000780.1:n.847+259T>C
NM_001382700.1:c.374+259T>C	NP_001369629.1:n.374+259T>C
NM_001382701.1:c.-6+259T>C	NP_001369630.1:n.-6+259T>C