Canonical Allele Identifier: CA2639237440

Gene: ACE

Linked Data

• gnomAD v4: 17-63477622-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63477622G>T , CM000679.2:g.63477622G>T	GRCh38
NC_000017.10:g.61554983G>T , CM000679.1:g.61554983G>T	GRCh37
NC_000017.9:g.58908715G>T	NCBI36
NG_011648.1:g.5550G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.249+279G>T MANE Select	ENSP00000290866.4:n.249+279G>T
ENST00000290866.9:c.249+279G>T	ENSP00000290866.4:n.249+279G>T
ENST00000428043.5:c.249+279G>T	ENSP00000397593.2:n.249+279G>T
ENST00000579462.1:n.274+279G>T
ENST00000580318.1:n.130G>T
ENST00000582627.1:c.81G>T	ENSP00000462280.1:p.Ser27=
ENST00000582678.5:c.249+279G>T	ENSP00000462995.1:n.249+279G>T
ENST00000583336.5:n.283+279G>T
ENST00000584529.5:n.283+279G>T
NM_000789.3:c.249+279G>T	NP_000780.1:n.249+279G>T
XM_005257110.1:c.-207+279G>T	XP_005257167.1:n.-207+279G>T
NM_000789.4:c.249+279G>T MANE Select	NP_000780.1:n.249+279G>T
NM_001382700.1:c.14+279G>T	NP_001369629.1:n.14+279G>T
NM_001382701.1:c.-366+279G>T	NP_001369630.1:n.-366+279G>T