Canonical Allele Identifier: CA359191163

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13753414G>C (hg19) ; chr5:g.13753305G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13753305G>C , CM000667.2:g.13753305G>C	GRCh38
NC_000005.9:g.13753414G>C , CM000667.1:g.13753414G>C	GRCh37
NC_000005.8:g.13806414G>C	NCBI36
NG_013081.1:g.196176C>G
NG_013081.2:g.196176C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10800C>G MANE Select	ENSP00000265104.4:p.Tyr3600Ter
ENST00000681290.1:c.10755C>G	ENSP00000505288.1:p.Tyr3585Ter
ENST00000265104.4:c.10800C>G	ENSP00000265104.4:p.Tyr3600Ter
NM_001369.2:c.10800C>G	NP_001360.1:p.Tyr3600Ter
XM_005248262.2:c.10755C>G	XP_005248319.1:p.Tyr3585Ter
XM_005248262.3:c.10908C>G	XP_005248319.2:p.Tyr3636Ter
XM_017009177.1:c.10908C>G	XP_016864666.1:p.Tyr3636Ter
XM_017009178.1:c.9813C>G	XP_016864667.1:p.Tyr3271Ter
XM_017009179.2:c.9813C>G	XP_016864668.1:p.Tyr3271Ter
XM_017009180.1:c.10908C>G	XP_016864669.1:p.Tyr3636Ter
XM_017009181.1:c.10908C>G	XP_016864670.1:p.Tyr3636Ter
XM_017009182.1:c.10908C>G	XP_016864671.1:p.Tyr3636Ter
XM_017009185.1:c.5997C>G	XP_016864674.1:p.Tyr1999Ter
XM_017009186.1:c.5550C>G	XP_016864675.1:p.Tyr1850Ter
XM_017009188.1:c.4887C>G	XP_016864677.1:p.Tyr1629Ter
XM_024454388.1:c.9813C>G	XP_024310156.1:p.Tyr3271Ter
XM_024454389.1:c.9402C>G	XP_024310157.1:p.Tyr3134Ter
NM_001369.3:c.10800C>G MANE Select	NP_001360.1:p.Tyr3600Ter