Canonical Allele Identifier: CA6084149

Gene: EHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64854630G>A , CM000673.2:g.64854630G>A	GRCh38
NC_000011.9:g.64622102G>A , CM000673.1:g.64622102G>A	GRCh37
NC_000011.8:g.64378678G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320631.8:c.1308C>T MANE Select	ENSP00000320516.3:p.Asp436=
ENST00000320631.7:c.1308C>T	ENSP00000320516.3:p.Asp436=
ENST00000359393.6:c.1308C>T	ENSP00000352354.2:p.Asp436=
ENST00000421510.5:c.900C>T	ENSP00000391429.1:p.Asp300=
ENST00000484846.1:n.1570C>T
ENST00000488711.1:n.310C>T
ENST00000621096.4:c.1350C>T	ENSP00000479153.1:p.Asp450=
NM_001282444.1:c.1308C>T	NP_001269373.1:p.Asp436=
NM_001282445.1:c.1350C>T	NP_001269374.1:p.Asp450=
NM_006795.3:c.1308C>T	NP_006786.2:p.Asp436=
XM_011544739.1:c.1308C>T	XP_011543041.1:p.Asp436=
NM_006795.4:c.1308C>T MANE Select	NP_006786.2:p.Asp436=
NM_001282444.2:c.1308C>T	NP_001269373.1:p.Asp436=
NM_001282445.2:c.1350C>T	NP_001269374.1:p.Asp450=