Canonical Allele Identifier: CA359196678

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13708284C>A (hg19) ; chr5:g.13708175C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13708175C>A , CM000667.2:g.13708175C>A	GRCh38
NC_000005.9:g.13708284C>A , CM000667.1:g.13708284C>A	GRCh37
NC_000005.8:g.13761284C>A	NCBI36
NG_013081.1:g.241306G>T
NG_013081.2:g.241306G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.619G>T
ENST00000265104.5:c.13286G>T MANE Select	ENSP00000265104.4:p.Arg4429Leu
ENST00000681290.1:c.13241G>T	ENSP00000505288.1:p.Arg4414Leu
ENST00000265104.4:c.13286G>T	ENSP00000265104.4:p.Arg4429Leu
NM_001369.2:c.13286G>T	NP_001360.1:p.Arg4429Leu
XM_005248262.2:c.13241G>T	XP_005248319.1:p.Arg4414Leu
XM_005248262.3:c.13394G>T	XP_005248319.2:p.Arg4465Leu
XM_017009177.1:c.12974G>T	XP_016864666.1:p.Arg4325Leu
XM_017009178.1:c.12299G>T	XP_016864667.1:p.Arg4100Leu
XM_017009179.2:c.12299G>T	XP_016864668.1:p.Arg4100Leu
XM_017009185.1:c.8483G>T	XP_016864674.1:p.Arg2828Leu
XM_017009186.1:c.8036G>T	XP_016864675.1:p.Arg2679Leu
XM_017009188.1:c.7373G>T	XP_016864677.1:p.Arg2458Leu
XM_024454388.1:c.12299G>T	XP_024310156.1:p.Arg4100Leu
XM_024454389.1:c.11888G>T	XP_024310157.1:p.Arg3963Leu
NM_001369.3:c.13286G>T MANE Select	NP_001360.1:p.Arg4429Leu