Canonical Allele Identifier: CA10801780

Gene: ECE1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21290752G>T , CM000663.2:g.21290752G>T	GRCh38
NC_000001.10:g.21617245G>T , CM000663.1:g.21617245G>T	GRCh37
NC_000001.9:g.21489832G>T	NCBI36
NG_013008.1:g.59790C>A
NG_013008.2:g.59790C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649812.1:c.4-596C>A	ENSP00000497333.1:n.4-596C>A
ENST00000415912.6:c.4-596C>A	ENSP00000405088.2:n.4-596C>A
ENST00000463334.2:n.202-596C>A
ENST00000481130.6:c.10-596C>A	ENSP00000436633.1:n.10-596C>A
ENST00000527991.2:c.1-596C>A	ENSP00000432860.1:n.1-596C>A
NM_001113348.1:c.4-596C>A	NP_001106819.1:n.4-596C>A
XM_006710398.1:c.1-596C>A	XP_006710461.1:n.1-596C>A
XM_011540872.1:c.76-596C>A	XP_011539174.1:n.76-596C>A
XM_011540873.1:c.1-596C>A	XP_011539175.1:n.1-596C>A
XM_006710398.2:c.1-596C>A	XP_006710461.1:n.1-596C>A
XM_011540872.2:c.76-596C>A	XP_011539174.1:n.76-596C>A
XM_011540873.2:c.1-596C>A	XP_011539175.1:n.1-596C>A
NM_001113348.2:c.4-596C>A	NP_001106819.1:n.4-596C>A