Canonical Allele Identifier: CA2325778180

Gene: BABAM1 USHBP1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17278839C= , CM000681.2:g.17278839C=	GRCh38
NC_000019.9:g.17389648C= , CM000681.1:g.17389648C=	GRCh37
NC_000019.8:g.17250648C=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_014173.4:c.787-6C= (BABAM1) MANE Select	NP_054892.2:n.787-6C=
ENST00000598188.6:c.787-6C= (BABAM1) MANE Select	ENSP00000471605.1:n.787-6C=
NM_001033549.2:c.787-6C= (BABAM1)	NP_001028721.1:n.787-6C=
NM_001033549.3:c.787-6C= (BABAM1)	NP_001028721.1:n.787-6C=
NM_001288756.1:c.787-6C= (BABAM1)	NP_001275685.1:n.787-6C=
NM_001288756.2:c.787-6C= (BABAM1)	NP_001275685.1:n.787-6C=
NM_001288757.1:c.562-6C= (BABAM1)	NP_001275686.1:n.562-6C=
NM_001288757.2:c.562-6C= (BABAM1)	NP_001275686.1:n.562-6C=
NM_014173.3:c.787-6C= (BABAM1)	NP_054892.2:n.787-6C=
ENST00000359435.8:c.787-6C= (BABAM1)	ENSP00000352408.3:n.787-6C=
ENST00000447614.6:c.562-6C= (BABAM1)	ENSP00000407826.3:n.562-6C=
ENST00000594247.5:c.*498+1495C= (BABAM1)	ENSP00000469527.1:n.*498+1495C=
ENST00000595632.5:c.562-6C= (BABAM1)	ENSP00000468834.1:n.562-6C=
ENST00000596542.1:c.*400+1930C=	ENSP00000469159.2:n.*400+1930C=
ENST00000598188.5:c.787-6C= (BABAM1)	ENSP00000471605.1:n.787-6C=
ENST00000598309.1:c.-201+3697G= (USHBP1)	ENSP00000471680.1:n.-201+3697G=
ENST00000598382.1:n.285-6C= (BABAM1)
ENST00000598567.1:c.232-198C= (BABAM1)
ENST00000601043.5:c.787-6C= (BABAM1)	ENSP00000470920.1:n.787-6C=
ENST00000601232.1:c.193-6C= (BABAM1)	ENSP00000470295.1:n.193-6C=