Canonical Allele Identifier: CA359213329

Gene: DNAH5

Linked Data

• dbSNP Id: rs1776310146
• gnomAD v3: 5-13913760-T-A
• gnomAD v4: 5-13913760-T-A
• MyVariant Identifiers: chr5:g.13913869T>A (hg19) ; chr5:g.13913760T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13913760T>A , CM000667.2:g.13913760T>A	GRCh38
NC_000005.9:g.13913869T>A , CM000667.1:g.13913869T>A	GRCh37
NC_000005.8:g.13966869T>A	NCBI36
NG_013081.1:g.35721A>T
NG_013081.2:g.35721A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000680213.2:n.1575A>T
ENST00000682376.1:n.5748A>T
ENST00000683011.1:n.1458A>T
ENST00000683967.1:n.3884A>T
ENST00000684013.1:n.2179A>T
ENST00000684099.1:n.2175A>T
ENST00000265104.5:c.1519A>T MANE Select	ENSP00000265104.4:p.Met507Leu
ENST00000680213.1:c.1279A>T	ENSP00000506622.1:p.Met427Leu
ENST00000681290.1:c.1474A>T	ENSP00000505288.1:p.Met492Leu
ENST00000265104.4:c.1519A>T	ENSP00000265104.4:p.Met507Leu
ENST00000508040.1:n.1927A>T
NM_001369.2:c.1519A>T	NP_001360.1:p.Met507Leu
XM_005248262.2:c.1474A>T	XP_005248319.1:p.Met492Leu
XM_011513990.1:c.1519A>T	XP_011512292.1:p.Met507Leu
XR_925598.1:n.1726A>T
XM_005248262.3:c.1627A>T	XP_005248319.2:p.Met543Leu
XM_017009177.1:c.1627A>T	XP_016864666.1:p.Met543Leu
XM_017009178.1:c.532A>T	XP_016864667.1:p.Met178Leu
XM_017009179.2:c.532A>T	XP_016864668.1:p.Met178Leu
XM_017009180.1:c.1627A>T	XP_016864669.1:p.Met543Leu
XM_017009181.1:c.1627A>T	XP_016864670.1:p.Met543Leu
XM_017009182.1:c.1627A>T	XP_016864671.1:p.Met543Leu
XM_017009183.1:c.1627A>T	XP_016864672.1:p.Met543Leu
XM_017009184.1:c.1627A>T	XP_016864673.1:p.Met543Leu
XM_017009187.1:c.1627A>T	XP_016864676.1:p.Met543Leu
XM_024454388.1:c.532A>T	XP_024310156.1:p.Met178Leu
XM_024454389.1:c.121A>T	XP_024310157.1:p.Met41Leu
XR_001742034.1:n.1644A>T
XR_001742035.1:n.1644A>T
NM_001369.3:c.1519A>T MANE Select	NP_001360.1:p.Met507Leu