Canonical Allele Identifier: CA2838187189

Gene: EPB41L4A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112357674T>A , CM000667.2:g.112357674T>A	GRCh38
NC_000005.9:g.111693371T>A , CM000667.1:g.111693371T>A	GRCh37
NC_000005.8:g.111721270T>A	NCBI36
NG_052950.1:g.66643A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261486.6:c.100-50184A>T MANE Select	ENSP00000261486.5:n.100-50184A>T
ENST00000261486.5:c.100-50184A>T	ENSP00000261486.5:n.100-50184A>T
ENST00000305368.8:n.374-50184A>T
ENST00000512395.5:n.62+35049A>T
ENST00000621003.4:c.100-50184A>T	ENSP00000482810.1:n.100-50184A>T
NM_022140.3:c.100-50184A>T	NP_071423.3:n.100-50184A>T
XM_011543530.1:c.100-50184A>T	XP_011541832.1:n.100-50184A>T
XM_011543531.1:c.100-50184A>T	XP_011541833.1:n.100-50184A>T
XM_011543532.1:c.100-50184A>T	XP_011541834.1:n.100-50184A>T
XM_011543533.1:c.100-50184A>T	XP_011541835.1:n.100-50184A>T
NM_001347887.1:c.100-50184A>T	NP_001334816.1:n.100-50184A>T
NM_001347888.1:c.100-50184A>T	NP_001334817.1:n.100-50184A>T
NM_022140.4:c.100-50184A>T	NP_071423.4:n.100-50184A>T
NR_144931.1:n.377-50184A>T
XM_011543531.3:c.100-50184A>T	XP_011541833.1:n.100-50184A>T
XM_011543532.2:c.100-50184A>T	XP_011541834.1:n.100-50184A>T
XM_011543533.2:c.100-50184A>T	XP_011541835.1:n.100-50184A>T
XM_017009689.2:c.100-50184A>T	XP_016865178.1:n.100-50184A>T
XR_001742173.2:n.285-50184A>T
NM_022140.5:c.100-50184A>T MANE Select	NP_071423.4:n.100-50184A>T
NM_001347887.2:c.100-50184A>T	NP_001334816.1:n.100-50184A>T
NM_001347888.2:c.100-50184A>T	NP_001334817.1:n.100-50184A>T
NR_144931.2:n.338-50184A>T