Canonical Allele Identifier: CA113933001

Gene: DNAH5

Linked Data

• dbSNP Id: rs376503510
• gnomAD v2: 5-13770981-A-T
• gnomAD v3: 5-13770872-A-T
• gnomAD v4: 5-13770872-A-T
• MyVariant Identifiers: chr5:g.13770981A>T (hg19) ; chr5:g.13770872A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13770872A>T , CM000667.2:g.13770872A>T	GRCh38
NC_000005.9:g.13770981A>T , CM000667.1:g.13770981A>T	GRCh37
NC_000005.8:g.13823981A>T	NCBI36
NG_013081.1:g.178609T>A
NG_013081.2:g.178609T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9482T>A MANE Select	ENSP00000265104.4:p.Val3161Asp
ENST00000681290.1:c.9437T>A	ENSP00000505288.1:p.Val3146Asp
ENST00000265104.4:c.9482T>A	ENSP00000265104.4:p.Val3161Asp
ENST00000504001.3:n.194T>A
NM_001369.2:c.9482T>A	NP_001360.1:p.Val3161Asp
XM_005248262.2:c.9437T>A	XP_005248319.1:p.Val3146Asp
XM_005248262.3:c.9590T>A	XP_005248319.2:p.Val3197Asp
XM_017009177.1:c.9590T>A	XP_016864666.1:p.Val3197Asp
XM_017009178.1:c.8495T>A	XP_016864667.1:p.Val2832Asp
XM_017009179.2:c.8495T>A	XP_016864668.1:p.Val2832Asp
XM_017009180.1:c.9590T>A	XP_016864669.1:p.Val3197Asp
XM_017009181.1:c.9590T>A	XP_016864670.1:p.Val3197Asp
XM_017009182.1:c.9590T>A	XP_016864671.1:p.Val3197Asp
XM_017009183.1:c.9590T>A	XP_016864672.1:p.Val3197Asp
XM_017009185.1:c.4679T>A	XP_016864674.1:p.Val1560Asp
XM_017009186.1:c.4232T>A	XP_016864675.1:p.Val1411Asp
XM_017009188.1:c.3569T>A	XP_016864677.1:p.Val1190Asp
XM_024454388.1:c.8495T>A	XP_024310156.1:p.Val2832Asp
XM_024454389.1:c.8084T>A	XP_024310157.1:p.Val2695Asp
NM_001369.3:c.9482T>A MANE Select	NP_001360.1:p.Val3161Asp