Canonical Allele Identifier: CA2639261559

Gene: ACE

Linked Data

• gnomAD v4: 17-63483681-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63483681C>T , CM000679.2:g.63483681C>T	GRCh38
NC_000017.10:g.61561042C>T , CM000679.1:g.61561042C>T	GRCh37
NC_000017.9:g.58914774C>T	NCBI36
NG_011648.1:g.11609C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000290866.10:c.1586+123C>T MANE Select	ENSP00000290866.4:n.1586+123C>T
ENST00000290866.9:c.1586+123C>T	ENSP00000290866.4:n.1586+123C>T
ENST00000428043.5:c.1586+123C>T	ENSP00000397593.2:n.1586+123C>T
ENST00000582678.5:c.*985+123C>T	ENSP00000462995.1:n.*985+123C>T
NM_000789.3:c.1586+123C>T	NP_000780.1:n.1586+123C>T
XM_005257110.1:c.1037+123C>T	XP_005257167.1:n.1037+123C>T
NM_000789.4:c.1586+123C>T MANE Select	NP_000780.1:n.1586+123C>T
NM_001382700.1:c.1019+123C>T	NP_001369629.1:n.1019+123C>T
NM_001382701.1:c.734+123C>T	NP_001369630.1:n.734+123C>T