Canonical Allele Identifier: CA359192251

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13753624A>C (hg19) ; chr5:g.13753515A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13753515A>C , CM000667.2:g.13753515A>C	GRCh38
NC_000005.9:g.13753624A>C , CM000667.1:g.13753624A>C	GRCh37
NC_000005.8:g.13806624A>C	NCBI36
NG_013081.1:g.195966T>G
NG_013081.2:g.195966T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10590T>G MANE Select	ENSP00000265104.4:p.Tyr3530Ter
ENST00000681290.1:c.10545T>G	ENSP00000505288.1:p.Tyr3515Ter
ENST00000265104.4:c.10590T>G	ENSP00000265104.4:p.Tyr3530Ter
NM_001369.2:c.10590T>G	NP_001360.1:p.Tyr3530Ter
XM_005248262.2:c.10545T>G	XP_005248319.1:p.Tyr3515Ter
XM_005248262.3:c.10698T>G	XP_005248319.2:p.Tyr3566Ter
XM_017009177.1:c.10698T>G	XP_016864666.1:p.Tyr3566Ter
XM_017009178.1:c.9603T>G	XP_016864667.1:p.Tyr3201Ter
XM_017009179.2:c.9603T>G	XP_016864668.1:p.Tyr3201Ter
XM_017009180.1:c.10698T>G	XP_016864669.1:p.Tyr3566Ter
XM_017009181.1:c.10698T>G	XP_016864670.1:p.Tyr3566Ter
XM_017009182.1:c.10698T>G	XP_016864671.1:p.Tyr3566Ter
XM_017009185.1:c.5787T>G	XP_016864674.1:p.Tyr1929Ter
XM_017009186.1:c.5340T>G	XP_016864675.1:p.Tyr1780Ter
XM_017009188.1:c.4677T>G	XP_016864677.1:p.Tyr1559Ter
XM_024454388.1:c.9603T>G	XP_024310156.1:p.Tyr3201Ter
XM_024454389.1:c.9192T>G	XP_024310157.1:p.Tyr3064Ter
NM_001369.3:c.10590T>G MANE Select	NP_001360.1:p.Tyr3530Ter