Canonical Allele Identifier: CA359191568

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13753493C>A (hg19) ; chr5:g.13753384C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13753384C>A , CM000667.2:g.13753384C>A	GRCh38
NC_000005.9:g.13753493C>A , CM000667.1:g.13753493C>A	GRCh37
NC_000005.8:g.13806493C>A	NCBI36
NG_013081.1:g.196097G>T
NG_013081.2:g.196097G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10721G>T MANE Select	ENSP00000265104.4:p.Ser3574Ile
ENST00000681290.1:c.10676G>T	ENSP00000505288.1:p.Ser3559Ile
ENST00000265104.4:c.10721G>T	ENSP00000265104.4:p.Ser3574Ile
NM_001369.2:c.10721G>T	NP_001360.1:p.Ser3574Ile
XM_005248262.2:c.10676G>T	XP_005248319.1:p.Ser3559Ile
XM_005248262.3:c.10829G>T	XP_005248319.2:p.Ser3610Ile
XM_017009177.1:c.10829G>T	XP_016864666.1:p.Ser3610Ile
XM_017009178.1:c.9734G>T	XP_016864667.1:p.Ser3245Ile
XM_017009179.2:c.9734G>T	XP_016864668.1:p.Ser3245Ile
XM_017009180.1:c.10829G>T	XP_016864669.1:p.Ser3610Ile
XM_017009181.1:c.10829G>T	XP_016864670.1:p.Ser3610Ile
XM_017009182.1:c.10829G>T	XP_016864671.1:p.Ser3610Ile
XM_017009185.1:c.5918G>T	XP_016864674.1:p.Ser1973Ile
XM_017009186.1:c.5471G>T	XP_016864675.1:p.Ser1824Ile
XM_017009188.1:c.4808G>T	XP_016864677.1:p.Ser1603Ile
XM_024454388.1:c.9734G>T	XP_024310156.1:p.Ser3245Ile
XM_024454389.1:c.9323G>T	XP_024310157.1:p.Ser3108Ile
NM_001369.3:c.10721G>T MANE Select	NP_001360.1:p.Ser3574Ile