Canonical Allele Identifier: CA2838227776

Gene: EPB41L4A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112388301A>T , CM000667.2:g.112388301A>T	GRCh38
NC_000005.9:g.111723998A>T , CM000667.1:g.111723998A>T	GRCh37
NC_000005.8:g.111751897A>T	NCBI36
NG_052950.1:g.36016T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261486.6:c.99+30640T>A MANE Select	ENSP00000261486.5:n.99+30640T>A
ENST00000261486.5:c.99+30640T>A	ENSP00000261486.5:n.99+30640T>A
ENST00000305368.8:n.373+30640T>A
ENST00000512395.5:n.62+4422T>A
ENST00000621003.4:c.99+30640T>A	ENSP00000482810.1:n.99+30640T>A
NM_022140.3:c.99+30640T>A	NP_071423.3:n.99+30640T>A
XM_011543530.1:c.99+30640T>A	XP_011541832.1:n.99+30640T>A
XM_011543531.1:c.99+30640T>A	XP_011541833.1:n.99+30640T>A
XM_011543532.1:c.99+30640T>A	XP_011541834.1:n.99+30640T>A
XM_011543533.1:c.99+30640T>A	XP_011541835.1:n.99+30640T>A
NM_001347887.1:c.99+30640T>A	NP_001334816.1:n.99+30640T>A
NM_001347888.1:c.99+30640T>A	NP_001334817.1:n.99+30640T>A
NM_022140.4:c.99+30640T>A	NP_071423.4:n.99+30640T>A
NR_144931.1:n.376+30640T>A
XM_011543531.3:c.99+30640T>A	XP_011541833.1:n.99+30640T>A
XM_011543532.2:c.99+30640T>A	XP_011541834.1:n.99+30640T>A
XM_011543533.2:c.99+30640T>A	XP_011541835.1:n.99+30640T>A
XM_017009689.2:c.99+30640T>A	XP_016865178.1:n.99+30640T>A
XR_001742173.2:n.284+30640T>A
NM_022140.5:c.99+30640T>A MANE Select	NP_071423.4:n.99+30640T>A
NM_001347887.2:c.99+30640T>A	NP_001334816.1:n.99+30640T>A
NM_001347888.2:c.99+30640T>A	NP_001334817.1:n.99+30640T>A
NR_144931.2:n.337+30640T>A