Canonical Allele Identifier: CA11120017

Gene: DNAH6

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.84699360C>T , CM000664.2:g.84699360C>T	GRCh38
NC_000002.11:g.84926484C>T , CM000664.1:g.84926484C>T	GRCh37
NC_000002.10:g.84779995C>T	NCBI36
NG_050957.1:g.244821C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001370.2:c.7678-234C>T MANE Select	NP_001361.1:n.7678-234C>T
ENST00000389394.8:c.7678-234C>T MANE Select	ENSP00000374045.3:n.7678-234C>T
NM_001370.1:c.7678-234C>T	NP_001361.1:n.7678-234C>T
ENST00000237449.10:c.7678-234C>T	ENSP00000237449.6:n.7678-234C>T
ENST00000389394.7:c.7678-234C>T	ENSP00000374045.3:n.7678-234C>T
XM_006711956.2:c.7678-234C>T	XP_006712019.1:n.7678-234C>T
XM_011532649.1:c.7678-234C>T	XP_011530951.1:n.7678-234C>T
XM_011532649.3:c.7678-234C>T	XP_011530951.1:n.7678-234C>T
XM_011532650.1:c.7678-234C>T	XP_011530952.1:n.7678-234C>T
XM_011532650.3:c.7678-234C>T	XP_011530952.1:n.7678-234C>T
XM_011532651.1:c.7678-234C>T	XP_011530953.1:n.7678-234C>T
XM_011532652.1:c.7552-234C>T	XP_011530954.1:n.7552-234C>T
XM_011532653.1:c.7531-234C>T	XP_011530955.1:n.7531-234C>T
XM_011532654.1:c.7288-234C>T	XP_011530956.1:n.7288-234C>T
XM_011532655.1:c.6694-234C>T	XP_011530957.1:n.6694-234C>T
XM_011532655.2:c.6694-234C>T	XP_011530957.1:n.6694-234C>T
XM_011532656.1:c.6415-234C>T	XP_011530958.1:n.6415-234C>T
XM_011532657.1:c.6415-234C>T	XP_011530959.1:n.6415-234C>T
XM_011532658.1:c.6184-234C>T	XP_011530960.1:n.6184-234C>T
XM_011532659.1:c.5686-234C>T	XP_011530961.1:n.5686-234C>T
XM_017003521.1:c.7405-234C>T	XP_016859010.1:n.7405-234C>T
XM_017003522.2:c.6415-234C>T	XP_016859011.1:n.6415-234C>T
XM_017003523.2:c.6415-234C>T	XP_016859012.1:n.6415-234C>T
XR_001739574.1:n.602-9278G>A