Canonical Allele Identifier: CA3202199

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13754206C>G , CM000667.2:g.13754206C>G	GRCh38
NC_000005.9:g.13754315C>G , CM000667.1:g.13754315C>G	GRCh37
NC_000005.8:g.13807315C>G	NCBI36
NG_013081.1:g.195275G>C
NG_013081.2:g.195275G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.10552G>C MANE Select	NP_001360.1:p.Val3518Leu
ENST00000265104.5:c.10552G>C MANE Select	ENSP00000265104.4:p.Val3518Leu
NM_001369.2:c.10552G>C	NP_001360.1:p.Val3518Leu
ENST00000265104.4:c.10552G>C	ENSP00000265104.4:p.Val3518Leu
ENST00000681290.1:c.10507G>C	ENSP00000505288.1:p.Val3503Leu
XM_005248262.2:c.10507G>C	XP_005248319.1:p.Val3503Leu
XM_005248262.3:c.10660G>C	XP_005248319.2:p.Val3554Leu
XM_017009177.1:c.10660G>C	XP_016864666.1:p.Val3554Leu
XM_017009178.1:c.9565G>C	XP_016864667.1:p.Val3189Leu
XM_017009179.2:c.9565G>C	XP_016864668.1:p.Val3189Leu
XM_017009180.1:c.10660G>C	XP_016864669.1:p.Val3554Leu
XM_017009181.1:c.10660G>C	XP_016864670.1:p.Val3554Leu
XM_017009182.1:c.10660G>C	XP_016864671.1:p.Val3554Leu
XM_017009185.1:c.5749G>C	XP_016864674.1:p.Val1917Leu
XM_017009186.1:c.5302G>C	XP_016864675.1:p.Val1768Leu
XM_017009188.1:c.4639G>C	XP_016864677.1:p.Val1547Leu
XM_024454388.1:c.9565G>C	XP_024310156.1:p.Val3189Leu
XM_024454389.1:c.9154G>C	XP_024310157.1:p.Val3052Leu