Canonical Allele Identifier: CA664864

Gene: ECE1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21219931G>A , CM000663.2:g.21219931G>A	GRCh38
NC_000001.10:g.21546424G>A , CM000663.1:g.21546424G>A	GRCh37
NC_000001.9:g.21419011G>A	NCBI36
NG_013008.1:g.130611C>T
NG_013008.2:g.130611C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001397.3:c.*24C>T MANE Select	NP_001388.1:n.*24C>T
ENST00000374893.11:c.*24C>T MANE Select	ENSP00000364028.6:n.*24C>T
NM_001113347.1:c.*24C>T	NP_001106818.1:n.*24C>T
NM_001113347.2:c.*24C>T	NP_001106818.1:n.*24C>T
NM_001113348.1:c.*24C>T	NP_001106819.1:n.*24C>T
NM_001113348.2:c.*24C>T	NP_001106819.1:n.*24C>T
NM_001113349.1:c.*24C>T	NP_001106820.1:n.*24C>T
NM_001113349.2:c.*24C>T	NP_001106820.1:n.*24C>T
NM_001397.2:c.*24C>T	NP_001388.1:n.*24C>T
ENST00000357071.8:c.*24C>T	ENSP00000349581.4:n.*24C>T
ENST00000374893.10:c.*24C>T	ENSP00000364028.6:n.*24C>T
ENST00000415912.6:c.*24C>T	ENSP00000405088.2:n.*24C>T
ENST00000436918.6:c.*24C>T	ENSP00000388439.2:n.*24C>T
ENST00000531334.1:n.536C>T
ENST00000649812.1:c.2261+28C>T	ENSP00000497333.1:n.2261+28C>T
XM_006710398.1:c.*24C>T	XP_006710461.1:n.*24C>T
XM_006710398.2:c.*24C>T	XP_006710461.1:n.*24C>T
XM_011540872.1:c.*24C>T	XP_011539174.1:n.*24C>T
XM_011540872.2:c.*24C>T	XP_011539174.1:n.*24C>T
XM_011540873.1:c.*24C>T	XP_011539175.1:n.*24C>T
XM_011540873.2:c.*24C>T	XP_011539175.1:n.*24C>T