Canonical Allele Identifier: CA359202498

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13769241A>G (hg19) ; chr5:g.13769132A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13769132A>G , CM000667.2:g.13769132A>G	GRCh38
NC_000005.9:g.13769241A>G , CM000667.1:g.13769241A>G	GRCh37
NC_000005.8:g.13822241A>G	NCBI36
NG_013081.1:g.180349T>C
NG_013081.2:g.180349T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9725T>C MANE Select	ENSP00000265104.4:p.Leu3242Ser
ENST00000681290.1:c.9680T>C	ENSP00000505288.1:p.Leu3227Ser
ENST00000265104.4:c.9725T>C	ENSP00000265104.4:p.Leu3242Ser
ENST00000504001.3:n.437T>C
NM_001369.2:c.9725T>C	NP_001360.1:p.Leu3242Ser
XM_005248262.2:c.9680T>C	XP_005248319.1:p.Leu3227Ser
XM_005248262.3:c.9833T>C	XP_005248319.2:p.Leu3278Ser
XM_017009177.1:c.9833T>C	XP_016864666.1:p.Leu3278Ser
XM_017009178.1:c.8738T>C	XP_016864667.1:p.Leu2913Ser
XM_017009179.2:c.8738T>C	XP_016864668.1:p.Leu2913Ser
XM_017009180.1:c.9833T>C	XP_016864669.1:p.Leu3278Ser
XM_017009181.1:c.9833T>C	XP_016864670.1:p.Leu3278Ser
XM_017009182.1:c.9833T>C	XP_016864671.1:p.Leu3278Ser
XM_017009185.1:c.4922T>C	XP_016864674.1:p.Leu1641Ser
XM_017009186.1:c.4475T>C	XP_016864675.1:p.Leu1492Ser
XM_017009188.1:c.3812T>C	XP_016864677.1:p.Leu1271Ser
XM_024454388.1:c.8738T>C	XP_024310156.1:p.Leu2913Ser
XM_024454389.1:c.8327T>C	XP_024310157.1:p.Leu2776Ser
NM_001369.3:c.9725T>C MANE Select	NP_001360.1:p.Leu3242Ser