Canonical Allele Identifier: CA8699363

Gene: ACE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63481658G>C , CM000679.2:g.63481658G>C	GRCh38
NC_000017.10:g.61559019G>C , CM000679.1:g.61559019G>C	GRCh37
NC_000017.9:g.58912751G>C	NCBI36
NG_011648.1:g.9586G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000789.4:c.1038G>C MANE Select	NP_000780.1:p.Ser346=
ENST00000290866.10:c.1038G>C MANE Select	ENSP00000290866.4:p.Ser346=
NM_000789.3:c.1038G>C	NP_000780.1:p.Ser346=
NM_001382700.1:c.472+470G>C	NP_001369629.1:n.472+470G>C
NM_001382701.1:c.186G>C	NP_001369630.1:p.Ser62=
ENST00000290866.9:c.1038G>C	ENSP00000290866.4:p.Ser346=
ENST00000428043.5:c.1038G>C	ENSP00000397593.2:p.Ser346=
ENST00000582678.5:c.*437G>C	ENSP00000462995.1:n.*437G>C
ENST00000584529.5:n.1072G>C
XM_005257110.1:c.489G>C	XP_005257167.1:p.Ser163=