Canonical Allele Identifier: CA443275863

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13919321C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13919212C>G , CM000667.2:g.13919212C>G	GRCh38
NC_000005.9:g.13919321C>G , CM000667.1:g.13919321C>G	GRCh37
NC_000005.8:g.13972321C>G	NCBI36
NG_013081.1:g.30269G>C
NG_013081.2:g.30269G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000680213.2:n.995G>C
ENST00000682376.1:n.983G>C
ENST00000682586.1:n.1032G>C
ENST00000683011.1:n.878G>C
ENST00000683967.1:n.1038G>C
ENST00000684013.1:n.1038G>C
ENST00000684099.1:n.1034G>C
ENST00000265104.5:c.939G>C MANE Select	ENSP00000265104.4:p.Leu313=
ENST00000680213.1:c.699G>C	ENSP00000506622.1:p.Leu233=
ENST00000681290.1:c.894G>C	ENSP00000505288.1:p.Leu298=
ENST00000265104.4:c.939G>C	ENSP00000265104.4:p.Leu313=
ENST00000508040.1:n.1347G>C
NM_001369.2:c.939G>C	NP_001360.1:p.Leu313=
XM_005248262.2:c.894G>C	XP_005248319.1:p.Leu298=
XM_011513990.1:c.939G>C	XP_011512292.1:p.Leu313=
XR_925598.1:n.1146G>C
XM_005248262.3:c.1047G>C	XP_005248319.2:p.Leu349=
XM_017009177.1:c.1047G>C	XP_016864666.1:p.Leu349=
XM_017009178.1:c.-49G>C	XP_016864667.1:n.-49G>C
XM_017009180.1:c.1047G>C	XP_016864669.1:p.Leu349=
XM_017009181.1:c.1047G>C	XP_016864670.1:p.Leu349=
XM_017009182.1:c.1047G>C	XP_016864671.1:p.Leu349=
XM_017009183.1:c.1047G>C	XP_016864672.1:p.Leu349=
XM_017009184.1:c.1047G>C	XP_016864673.1:p.Leu349=
XM_017009187.1:c.1047G>C	XP_016864676.1:p.Leu349=
XM_024454388.1:c.-1968G>C	XP_024310156.1:n.-1968G>C
XM_024454389.1:c.-1021G>C	XP_024310157.1:n.-1021G>C
XR_001742034.1:n.1064G>C
XR_001742035.1:n.1064G>C
NM_001369.3:c.939G>C MANE Select	NP_001360.1:p.Leu313=