Canonical Allele Identifier: CA2639237616

Gene: ACE

Linked Data

• gnomAD v4: 17-63478113-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63478113G>T , CM000679.2:g.63478113G>T	GRCh38
NC_000017.10:g.61555474G>T , CM000679.1:g.61555474G>T	GRCh37
NC_000017.9:g.58909206G>T	NCBI36
NG_011648.1:g.6041G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.417+15G>T MANE Select	ENSP00000290866.4:n.417+15G>T
ENST00000290866.9:c.417+15G>T	ENSP00000290866.4:n.417+15G>T
ENST00000428043.5:c.417+15G>T	ENSP00000397593.2:n.417+15G>T
ENST00000579462.1:n.457G>T
ENST00000580318.1:n.606+15G>T
ENST00000582627.1:c.417+15G>T	ENSP00000462280.1:n.417+15G>T
ENST00000582678.5:c.417+15G>T	ENSP00000462995.1:n.417+15G>T
ENST00000583336.5:n.451+15G>T
ENST00000584529.5:n.451+15G>T
NM_000789.3:c.417+15G>T	NP_000780.1:n.417+15G>T
XM_005257110.1:c.-39+15G>T	XP_005257167.1:n.-39+15G>T
NM_000789.4:c.417+15G>T MANE Select	NP_000780.1:n.417+15G>T
NM_001382700.1:c.182+15G>T	NP_001369629.1:n.182+15G>T
NM_001382701.1:c.-198+15G>T	NP_001369630.1:n.-198+15G>T