Canonical Allele Identifier: CA3201523

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13716569A>G , CM000667.2:g.13716569A>G	GRCh38
NC_000005.9:g.13716678A>G , CM000667.1:g.13716678A>G	GRCh37
NC_000005.8:g.13769678A>G	NCBI36
NG_013081.1:g.232912T>C
NG_013081.2:g.232912T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.12827T>C MANE Select	NP_001360.1:p.Met4276Thr
ENST00000265104.5:c.12827T>C MANE Select	ENSP00000265104.4:p.Met4276Thr
NM_001369.2:c.12827T>C	NP_001360.1:p.Met4276Thr
ENST00000265104.4:c.12827T>C	ENSP00000265104.4:p.Met4276Thr
ENST00000681290.1:c.12782T>C	ENSP00000505288.1:p.Met4261Thr
XM_005248262.2:c.12782T>C	XP_005248319.1:p.Met4261Thr
XM_005248262.3:c.12935T>C	XP_005248319.2:p.Met4312Thr
XM_017009177.1:c.12813+746T>C	XP_016864666.1:n.12813+746T>C
XM_017009178.1:c.11840T>C	XP_016864667.1:p.Met3947Thr
XM_017009179.2:c.11840T>C	XP_016864668.1:p.Met3947Thr
XM_017009185.1:c.8024T>C	XP_016864674.1:p.Met2675Thr
XM_017009186.1:c.7577T>C	XP_016864675.1:p.Met2526Thr
XM_017009188.1:c.6914T>C	XP_016864677.1:p.Met2305Thr
XM_024454388.1:c.11840T>C	XP_024310156.1:p.Met3947Thr
XM_024454389.1:c.11429T>C	XP_024310157.1:p.Met3810Thr