Canonical Allele Identifier: CA113905505

Gene: DNAH5

Linked Data

• dbSNP Id: rs868145795
• COSMIC: COSM5891849
• MyVariant Identifiers: chr5:g.13692233G>A (hg19) ; chr5:g.13692124G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1068C>T
ENST00000265104.5:c.13735C>T MANE Select	ENSP00000265104.4:p.Pro4579Ser
ENST00000681290.1:c.13690C>T	ENSP00000505288.1:p.Pro4564Ser
ENST00000265104.4:c.13735C>T	ENSP00000265104.4:p.Pro4579Ser
NM_001369.2:c.13735C>T	NP_001360.1:p.Pro4579Ser
XM_005248262.2:c.13690C>T	XP_005248319.1:p.Pro4564Ser
XM_005248262.3:c.13843C>T	XP_005248319.2:p.Pro4615Ser
XM_017009177.1:c.13423C>T	XP_016864666.1:p.Pro4475Ser
XM_017009178.1:c.12748C>T	XP_016864667.1:p.Pro4250Ser
XM_017009179.2:c.12748C>T	XP_016864668.1:p.Pro4250Ser
XM_017009185.1:c.8932C>T	XP_016864674.1:p.Pro2978Ser
XM_017009186.1:c.8485C>T	XP_016864675.1:p.Pro2829Ser
XM_017009188.1:c.7822C>T	XP_016864677.1:p.Pro2608Ser
XM_024454388.1:c.12748C>T	XP_024310156.1:p.Pro4250Ser
XM_024454389.1:c.12337C>T	XP_024310157.1:p.Pro4113Ser
NM_001369.3:c.13735C>T MANE Select	NP_001360.1:p.Pro4579Ser