Canonical Allele Identifier: CA359225043

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13736008A>G (hg19) ; chr5:g.13735899A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13735899A>G , CM000667.2:g.13735899A>G	GRCh38
NC_000005.9:g.13736008A>G , CM000667.1:g.13736008A>G	GRCh37
NC_000005.8:g.13789008A>G	NCBI36
NG_013081.1:g.213582T>C
NG_013081.2:g.213582T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.11489T>C MANE Select	ENSP00000265104.4:p.Ile3830Thr
ENST00000681290.1:c.11444T>C	ENSP00000505288.1:p.Ile3815Thr
ENST00000265104.4:c.11489T>C	ENSP00000265104.4:p.Ile3830Thr
NM_001369.2:c.11489T>C	NP_001360.1:p.Ile3830Thr
XM_005248262.2:c.11444T>C	XP_005248319.1:p.Ile3815Thr
XM_005248262.3:c.11597T>C	XP_005248319.2:p.Ile3866Thr
XM_017009177.1:c.11597T>C	XP_016864666.1:p.Ile3866Thr
XM_017009178.1:c.10502T>C	XP_016864667.1:p.Ile3501Thr
XM_017009179.2:c.10502T>C	XP_016864668.1:p.Ile3501Thr
XM_017009180.1:c.11597T>C	XP_016864669.1:p.Ile3866Thr
XM_017009181.1:c.11597T>C	XP_016864670.1:p.Ile3866Thr
XM_017009182.1:c.11353T>C	XP_016864671.1:p.Leu3785=
XM_017009185.1:c.6686T>C	XP_016864674.1:p.Ile2229Thr
XM_017009186.1:c.6239T>C	XP_016864675.1:p.Ile2080Thr
XM_017009188.1:c.5576T>C	XP_016864677.1:p.Ile1859Thr
XM_024454388.1:c.10502T>C	XP_024310156.1:p.Ile3501Thr
XM_024454389.1:c.10091T>C	XP_024310157.1:p.Ile3364Thr
NM_001369.3:c.11489T>C MANE Select	NP_001360.1:p.Ile3830Thr