Canonical Allele Identifier: CA359205341

Gene: DNAH5

Linked Data

• dbSNP Id: rs1381670710
• gnomAD v2: 5-13771071-G-A
• gnomAD v4: 5-13770962-G-A
• MyVariant Identifiers: chr5:g.13771071G>A (hg19) ; chr5:g.13770962G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13770962G>A , CM000667.2:g.13770962G>A	GRCh38
NC_000005.9:g.13771071G>A , CM000667.1:g.13771071G>A	GRCh37
NC_000005.8:g.13824071G>A	NCBI36
NG_013081.1:g.178519C>T
NG_013081.2:g.178519C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9392C>T MANE Select	ENSP00000265104.4:p.Thr3131Ile
ENST00000681290.1:c.9347C>T	ENSP00000505288.1:p.Thr3116Ile
ENST00000265104.4:c.9392C>T	ENSP00000265104.4:p.Thr3131Ile
ENST00000504001.3:n.104C>T
NM_001369.2:c.9392C>T	NP_001360.1:p.Thr3131Ile
XM_005248262.2:c.9347C>T	XP_005248319.1:p.Thr3116Ile
XM_005248262.3:c.9500C>T	XP_005248319.2:p.Thr3167Ile
XM_017009177.1:c.9500C>T	XP_016864666.1:p.Thr3167Ile
XM_017009178.1:c.8405C>T	XP_016864667.1:p.Thr2802Ile
XM_017009179.2:c.8405C>T	XP_016864668.1:p.Thr2802Ile
XM_017009180.1:c.9500C>T	XP_016864669.1:p.Thr3167Ile
XM_017009181.1:c.9500C>T	XP_016864670.1:p.Thr3167Ile
XM_017009182.1:c.9500C>T	XP_016864671.1:p.Thr3167Ile
XM_017009183.1:c.9500C>T	XP_016864672.1:p.Thr3167Ile
XM_017009185.1:c.4589C>T	XP_016864674.1:p.Thr1530Ile
XM_017009186.1:c.4142C>T	XP_016864675.1:p.Thr1381Ile
XM_017009188.1:c.3479C>T	XP_016864677.1:p.Thr1160Ile
XM_024454388.1:c.8405C>T	XP_024310156.1:p.Thr2802Ile
XM_024454389.1:c.7994C>T	XP_024310157.1:p.Thr2665Ile
NM_001369.3:c.9392C>T MANE Select	NP_001360.1:p.Thr3131Ile