Canonical Allele Identifier: CA2580613513

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13708118C>G , CM000667.2:g.13708118C>G	GRCh38
NC_000005.9:g.13708227C>G , CM000667.1:g.13708227C>G	GRCh37
NC_000005.8:g.13761227C>G	NCBI36
NG_013081.1:g.241363G>C
NG_013081.2:g.241363G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.13338+5G>C MANE Select	NP_001360.1:n.13338+5G>C
ENST00000265104.5:c.13338+5G>C MANE Select	ENSP00000265104.4:n.13338+5G>C
NM_001369.2:c.13338+5G>C	NP_001360.1:n.13338+5G>C
ENST00000265104.4:c.13338+5G>C	ENSP00000265104.4:n.13338+5G>C
ENST00000681290.1:c.13293+5G>C	ENSP00000505288.1:n.13293+5G>C
ENST00000683611.1:n.671+5G>C
XM_005248262.2:c.13293+5G>C	XP_005248319.1:n.13293+5G>C
XM_005248262.3:c.13446+5G>C	XP_005248319.2:n.13446+5G>C
XM_017009177.1:c.13026+5G>C	XP_016864666.1:n.13026+5G>C
XM_017009178.1:c.12351+5G>C	XP_016864667.1:n.12351+5G>C
XM_017009179.2:c.12351+5G>C	XP_016864668.1:n.12351+5G>C
XM_017009185.1:c.8535+5G>C	XP_016864674.1:n.8535+5G>C
XM_017009186.1:c.8088+5G>C	XP_016864675.1:n.8088+5G>C
XM_017009188.1:c.7425+5G>C	XP_016864677.1:n.7425+5G>C
XM_024454388.1:c.12351+5G>C	XP_024310156.1:n.12351+5G>C
XM_024454389.1:c.11940+5G>C	XP_024310157.1:n.11940+5G>C