Canonical Allele Identifier: CA8693880

Gene: EFCAB3

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.62391835C>T , CM000679.2:g.62391835C>T	GRCh38
NC_000017.10:g.60469196C>T , CM000679.1:g.60469196C>T	GRCh37
NC_000017.9:g.57822928C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305286.8:c.165C>T MANE Select	ENSP00000302649.3:p.Ala55=
ENST00000450662.7:c.321C>T	ENSP00000403932.2:p.Ala107=
ENST00000636041.1:n.550C>T
ENST00000305286.7:c.165C>T	ENSP00000302649.3:p.Ala55=
ENST00000450662.6:c.321C>T	ENSP00000403932.2:p.Ala107=
ENST00000518576.1:c.165C>T	ENSP00000428626.1:p.Ala55=
ENST00000520404.5:c.165C>T	ENSP00000429124.1:p.Ala55=
NM_001144933.1:c.321C>T	NP_001138405.1:p.Ala107=
NM_173503.3:c.165C>T	NP_775774.1:p.Ala55=
XM_011524380.1:c.165C>T	XP_011522682.1:p.Ala55=
XM_011524381.1:c.165C>T	XP_011522683.1:p.Ala55=
XM_011524381.2:c.231C>T	XP_011522683.2:p.Ala77=
NM_173503.4:c.165C>T MANE Select	NP_775774.1:p.Ala55=
NM_001144933.2:c.321C>T	NP_001138405.1:p.Ala107=