Canonical Allele Identifier: CA359190124

Gene: DNAH5

Linked Data

• COSMIC: COSM5466281
• MyVariant Identifiers: chr5:g.13752320C>A (hg19) ; chr5:g.13752211C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13752211C>A , CM000667.2:g.13752211C>A	GRCh38
NC_000005.9:g.13752320C>A , CM000667.1:g.13752320C>A	GRCh37
NC_000005.8:g.13805320C>A	NCBI36
NG_013081.1:g.197270G>T
NG_013081.2:g.197270G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10951G>T MANE Select	ENSP00000265104.4:p.Asp3651Tyr
ENST00000681290.1:c.10906G>T	ENSP00000505288.1:p.Asp3636Tyr
ENST00000265104.4:c.10951G>T	ENSP00000265104.4:p.Asp3651Tyr
NM_001369.2:c.10951G>T	NP_001360.1:p.Asp3651Tyr
XM_005248262.2:c.10906G>T	XP_005248319.1:p.Asp3636Tyr
XM_005248262.3:c.11059G>T	XP_005248319.2:p.Asp3687Tyr
XM_017009177.1:c.11059G>T	XP_016864666.1:p.Asp3687Tyr
XM_017009178.1:c.9964G>T	XP_016864667.1:p.Asp3322Tyr
XM_017009179.2:c.9964G>T	XP_016864668.1:p.Asp3322Tyr
XM_017009180.1:c.11059G>T	XP_016864669.1:p.Asp3687Tyr
XM_017009181.1:c.11059G>T	XP_016864670.1:p.Asp3687Tyr
XM_017009182.1:c.11059G>T	XP_016864671.1:p.Asp3687Tyr
XM_017009185.1:c.6148G>T	XP_016864674.1:p.Asp2050Tyr
XM_017009186.1:c.5701G>T	XP_016864675.1:p.Asp1901Tyr
XM_017009188.1:c.5038G>T	XP_016864677.1:p.Asp1680Tyr
XM_024454388.1:c.9964G>T	XP_024310156.1:p.Asp3322Tyr
XM_024454389.1:c.9553G>T	XP_024310157.1:p.Asp3185Tyr
NM_001369.3:c.10951G>T MANE Select	NP_001360.1:p.Asp3651Tyr