Canonical Allele Identifier: CA359192359

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13701290C>G , CM000667.2:g.13701290C>G	GRCh38
NC_000005.9:g.13701399C>G , CM000667.1:g.13701399C>G	GRCh37
NC_000005.8:g.13754399C>G	NCBI36
NG_013081.1:g.248191G>C
NG_013081.2:g.248191G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.13485G>C MANE Select	NP_001360.1:p.Met4495Ile
ENST00000265104.5:c.13485G>C MANE Select	ENSP00000265104.4:p.Met4495Ile
NM_001369.2:c.13485G>C	NP_001360.1:p.Met4495Ile
ENST00000265104.4:c.13485G>C	ENSP00000265104.4:p.Met4495Ile
ENST00000681290.1:c.13440G>C	ENSP00000505288.1:p.Met4480Ile
ENST00000683611.1:n.818G>C
XM_005248262.2:c.13440G>C	XP_005248319.1:p.Met4480Ile
XM_005248262.3:c.13593G>C	XP_005248319.2:p.Met4531Ile
XM_017009177.1:c.13173G>C	XP_016864666.1:p.Met4391Ile
XM_017009178.1:c.12498G>C	XP_016864667.1:p.Met4166Ile
XM_017009179.2:c.12498G>C	XP_016864668.1:p.Met4166Ile
XM_017009185.1:c.8682G>C	XP_016864674.1:p.Met2894Ile
XM_017009186.1:c.8235G>C	XP_016864675.1:p.Met2745Ile
XM_017009188.1:c.7572G>C	XP_016864677.1:p.Met2524Ile
XM_024454388.1:c.12498G>C	XP_024310156.1:p.Met4166Ile
XM_024454389.1:c.12087G>C	XP_024310157.1:p.Met4029Ile