Canonical Allele Identifier: CA359208499

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13717624T>G (hg19) ; chr5:g.13717515T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13717515T>G , CM000667.2:g.13717515T>G	GRCh38
NC_000005.9:g.13717624T>G , CM000667.1:g.13717624T>G	GRCh37
NC_000005.8:g.13770624T>G	NCBI36
NG_013081.1:g.231966A>C
NG_013081.2:g.231966A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.12505A>C MANE Select	ENSP00000265104.4:p.Ser4169Arg
ENST00000681290.1:c.12460A>C	ENSP00000505288.1:p.Ser4154Arg
ENST00000265104.4:c.12505A>C	ENSP00000265104.4:p.Ser4169Arg
NM_001369.2:c.12505A>C	NP_001360.1:p.Ser4169Arg
XM_005248262.2:c.12460A>C	XP_005248319.1:p.Ser4154Arg
XM_005248262.3:c.12613A>C	XP_005248319.2:p.Ser4205Arg
XM_017009177.1:c.12613A>C	XP_016864666.1:p.Ser4205Arg
XM_017009178.1:c.11518A>C	XP_016864667.1:p.Ser3840Arg
XM_017009179.2:c.11518A>C	XP_016864668.1:p.Ser3840Arg
XM_017009180.1:c.12613A>C	XP_016864669.1:p.Ser4205Arg
XM_017009185.1:c.7702A>C	XP_016864674.1:p.Ser2568Arg
XM_017009186.1:c.7255A>C	XP_016864675.1:p.Ser2419Arg
XM_017009188.1:c.6592A>C	XP_016864677.1:p.Ser2198Arg
XM_024454388.1:c.11518A>C	XP_024310156.1:p.Ser3840Arg
XM_024454389.1:c.11107A>C	XP_024310157.1:p.Ser3703Arg
NM_001369.3:c.12505A>C MANE Select	NP_001360.1:p.Ser4169Arg