Canonical Allele Identifier: CA3202438

Gene: DNAH5

Linked Data

• dbSNP Id: rs752312859
• ExAC: 5:13769231 C / T
• gnomAD v2: 5-13769231-C-T
• gnomAD v4: 5-13769122-C-T
• COSMIC: COSM1433421
• MyVariant Identifiers: chr5:g.13769231C>T (hg19) ; chr5:g.13769122C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13769122C>T , CM000667.2:g.13769122C>T	GRCh38
NC_000005.9:g.13769231C>T , CM000667.1:g.13769231C>T	GRCh37
NC_000005.8:g.13822231C>T	NCBI36
NG_013081.1:g.180359G>A
NG_013081.2:g.180359G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9735G>A MANE Select	ENSP00000265104.4:p.Val3245=
ENST00000681290.1:c.9690G>A	ENSP00000505288.1:p.Val3230=
ENST00000265104.4:c.9735G>A	ENSP00000265104.4:p.Val3245=
ENST00000504001.3:n.447G>A
NM_001369.2:c.9735G>A	NP_001360.1:p.Val3245=
XM_005248262.2:c.9690G>A	XP_005248319.1:p.Val3230=
XM_005248262.3:c.9843G>A	XP_005248319.2:p.Val3281=
XM_017009177.1:c.9843G>A	XP_016864666.1:p.Val3281=
XM_017009178.1:c.8748G>A	XP_016864667.1:p.Val2916=
XM_017009179.2:c.8748G>A	XP_016864668.1:p.Val2916=
XM_017009180.1:c.9843G>A	XP_016864669.1:p.Val3281=
XM_017009181.1:c.9843G>A	XP_016864670.1:p.Val3281=
XM_017009182.1:c.9843G>A	XP_016864671.1:p.Val3281=
XM_017009185.1:c.4932G>A	XP_016864674.1:p.Val1644=
XM_017009186.1:c.4485G>A	XP_016864675.1:p.Val1495=
XM_017009188.1:c.3822G>A	XP_016864677.1:p.Val1274=
XM_024454388.1:c.8748G>A	XP_024310156.1:p.Val2916=
XM_024454389.1:c.8337G>A	XP_024310157.1:p.Val2779=
NM_001369.3:c.9735G>A MANE Select	NP_001360.1:p.Val3245=