Canonical Allele Identifier: CA359196853

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13708299A>C (hg19) ; chr5:g.13708190A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13708190A>C , CM000667.2:g.13708190A>C	GRCh38
NC_000005.9:g.13708299A>C , CM000667.1:g.13708299A>C	GRCh37
NC_000005.8:g.13761299A>C	NCBI36
NG_013081.1:g.241291T>G
NG_013081.2:g.241291T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.604T>G
ENST00000265104.5:c.13271T>G MANE Select	ENSP00000265104.4:p.Met4424Arg
ENST00000681290.1:c.13226T>G	ENSP00000505288.1:p.Met4409Arg
ENST00000265104.4:c.13271T>G	ENSP00000265104.4:p.Met4424Arg
NM_001369.2:c.13271T>G	NP_001360.1:p.Met4424Arg
XM_005248262.2:c.13226T>G	XP_005248319.1:p.Met4409Arg
XM_005248262.3:c.13379T>G	XP_005248319.2:p.Met4460Arg
XM_017009177.1:c.12959T>G	XP_016864666.1:p.Met4320Arg
XM_017009178.1:c.12284T>G	XP_016864667.1:p.Met4095Arg
XM_017009179.2:c.12284T>G	XP_016864668.1:p.Met4095Arg
XM_017009185.1:c.8468T>G	XP_016864674.1:p.Met2823Arg
XM_017009186.1:c.8021T>G	XP_016864675.1:p.Met2674Arg
XM_017009188.1:c.7358T>G	XP_016864677.1:p.Met2453Arg
XM_024454388.1:c.12284T>G	XP_024310156.1:p.Met4095Arg
XM_024454389.1:c.11873T>G	XP_024310157.1:p.Met3958Arg
NM_001369.3:c.13271T>G MANE Select	NP_001360.1:p.Met4424Arg