Canonical Allele Identifier: CA626843980

Gene: ACE

Linked Data

• dbSNP Id: rs1467495666
• gnomAD v2: 17-61564442-C-T
• gnomAD v4: 17-63487081-C-T
• MyVariant Identifiers: chr17:g.61564442C>T (hg19) ; chr17:g.63487081C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63487081C>T , CM000679.2:g.63487081C>T	GRCh38
NC_000017.10:g.61564442C>T , CM000679.1:g.61564442C>T	GRCh37
NC_000017.9:g.58918174C>T	NCBI36
NG_011648.1:g.15009C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2305+8C>T MANE Select	ENSP00000290866.4:n.2305+8C>T
ENST00000290863.10:c.583+8C>T	ENSP00000290863.6:n.583+8C>T
ENST00000290866.9:c.2305+8C>T	ENSP00000290866.4:n.2305+8C>T
ENST00000413513.7:c.583+8C>T	ENSP00000392247.3:n.583+8C>T
ENST00000428043.5:c.2305+8C>T	ENSP00000397593.2:n.2305+8C>T
ENST00000577647.2:c.583+8C>T	ENSP00000464149.1:n.583+8C>T
ENST00000578839.5:c.*375+8C>T	ENSP00000462110.2:n.*375+8C>T
ENST00000579204.1:c.486+8C>T	ENSP00000464629.1:n.486+8C>T
ENST00000579314.5:c.583+8C>T	ENSP00000462599.1:n.583+8C>T
ENST00000582005.5:c.*225+8C>T	ENSP00000462002.1:n.*225+8C>T
ENST00000582761.1:c.73+8C>T	ENSP00000462909.1:n.73+8C>T
ENST00000584865.5:n.251+8C>T
NM_000789.3:c.2305+8C>T	NP_000780.1:n.2305+8C>T
NM_001178057.1:c.583+8C>T	NP_001171528.1:n.583+8C>T
NM_152830.2:c.583+8C>T	NP_690043.1:n.583+8C>T
XM_005257110.1:c.1756+8C>T	XP_005257167.1:n.1756+8C>T
XM_006721737.2:c.643+8C>T	XP_006721800.2:n.643+8C>T
XM_006721737.3:c.643+8C>T	XP_006721800.2:n.643+8C>T
NM_000789.4:c.2305+8C>T MANE Select	NP_000780.1:n.2305+8C>T
NM_001178057.2:c.583+8C>T	NP_001171528.1:n.583+8C>T
NM_152830.3:c.583+8C>T	NP_690043.1:n.583+8C>T
NM_001382700.1:c.1738+8C>T	NP_001369629.1:n.1738+8C>T
NM_001382701.1:c.1453+8C>T	NP_001369630.1:n.1453+8C>T
NM_001382702.1:c.235+8C>T	NP_001369631.1:n.235+8C>T
NR_168483.1:n.605+8C>T