Canonical Allele Identifier: CA359188763

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13692233G>C (hg19) ; chr5:g.13692124G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692124G>C , CM000667.2:g.13692124G>C	GRCh38
NC_000005.9:g.13692233G>C , CM000667.1:g.13692233G>C	GRCh37
NC_000005.8:g.13745233G>C	NCBI36
NG_013081.1:g.257357C>G
NG_013081.2:g.257357C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1068C>G
ENST00000265104.5:c.13735C>G MANE Select	ENSP00000265104.4:p.Pro4579Ala
ENST00000681290.1:c.13690C>G	ENSP00000505288.1:p.Pro4564Ala
ENST00000265104.4:c.13735C>G	ENSP00000265104.4:p.Pro4579Ala
NM_001369.2:c.13735C>G	NP_001360.1:p.Pro4579Ala
XM_005248262.2:c.13690C>G	XP_005248319.1:p.Pro4564Ala
XM_005248262.3:c.13843C>G	XP_005248319.2:p.Pro4615Ala
XM_017009177.1:c.13423C>G	XP_016864666.1:p.Pro4475Ala
XM_017009178.1:c.12748C>G	XP_016864667.1:p.Pro4250Ala
XM_017009179.2:c.12748C>G	XP_016864668.1:p.Pro4250Ala
XM_017009185.1:c.8932C>G	XP_016864674.1:p.Pro2978Ala
XM_017009186.1:c.8485C>G	XP_016864675.1:p.Pro2829Ala
XM_017009188.1:c.7822C>G	XP_016864677.1:p.Pro2608Ala
XM_024454388.1:c.12748C>G	XP_024310156.1:p.Pro4250Ala
XM_024454389.1:c.12337C>G	XP_024310157.1:p.Pro4113Ala
NM_001369.3:c.13735C>G MANE Select	NP_001360.1:p.Pro4579Ala