Canonical Allele Identifier: CA359196810

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13708296C>G (hg19) ; chr5:g.13708187C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13708187C>G , CM000667.2:g.13708187C>G	GRCh38
NC_000005.9:g.13708296C>G , CM000667.1:g.13708296C>G	GRCh37
NC_000005.8:g.13761296C>G	NCBI36
NG_013081.1:g.241294G>C
NG_013081.2:g.241294G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.607G>C
ENST00000265104.5:c.13274G>C MANE Select	ENSP00000265104.4:p.Ser4425Thr
ENST00000681290.1:c.13229G>C	ENSP00000505288.1:p.Ser4410Thr
ENST00000265104.4:c.13274G>C	ENSP00000265104.4:p.Ser4425Thr
NM_001369.2:c.13274G>C	NP_001360.1:p.Ser4425Thr
XM_005248262.2:c.13229G>C	XP_005248319.1:p.Ser4410Thr
XM_005248262.3:c.13382G>C	XP_005248319.2:p.Ser4461Thr
XM_017009177.1:c.12962G>C	XP_016864666.1:p.Ser4321Thr
XM_017009178.1:c.12287G>C	XP_016864667.1:p.Ser4096Thr
XM_017009179.2:c.12287G>C	XP_016864668.1:p.Ser4096Thr
XM_017009185.1:c.8471G>C	XP_016864674.1:p.Ser2824Thr
XM_017009186.1:c.8024G>C	XP_016864675.1:p.Ser2675Thr
XM_017009188.1:c.7361G>C	XP_016864677.1:p.Ser2454Thr
XM_024454388.1:c.12287G>C	XP_024310156.1:p.Ser4096Thr
XM_024454389.1:c.11876G>C	XP_024310157.1:p.Ser3959Thr
NM_001369.3:c.13274G>C MANE Select	NP_001360.1:p.Ser4425Thr