Canonical Allele Identifier: CA359232287

Gene: DNAH5

Linked Data

• dbSNP Id: rs1433012215
• gnomAD v2: 5-13871069-A-T
• gnomAD v4: 5-13870960-A-T
• MyVariant Identifiers: chr5:g.13871069A>T (hg19) ; chr5:g.13870960A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13870960A>T , CM000667.2:g.13870960A>T	GRCh38
NC_000005.9:g.13871069A>T , CM000667.1:g.13871069A>T	GRCh37
NC_000005.8:g.13924069A>T	NCBI36
NG_013081.1:g.78521T>A
NG_013081.2:g.78521T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.3641T>A MANE Select	ENSP00000265104.4:p.Met1214Lys
ENST00000681290.1:c.3596T>A	ENSP00000505288.1:p.Met1199Lys
ENST00000265104.4:c.3641T>A	ENSP00000265104.4:p.Met1214Lys
NM_001369.2:c.3641T>A	NP_001360.1:p.Met1214Lys
XM_005248262.2:c.3596T>A	XP_005248319.1:p.Met1199Lys
XM_011513990.1:c.3641T>A	XP_011512292.1:p.Met1214Lys
XR_925598.1:n.3848T>A
XM_005248262.3:c.3749T>A	XP_005248319.2:p.Met1250Lys
XM_017009177.1:c.3749T>A	XP_016864666.1:p.Met1250Lys
XM_017009178.1:c.2654T>A	XP_016864667.1:p.Met885Lys
XM_017009179.2:c.2654T>A	XP_016864668.1:p.Met885Lys
XM_017009180.1:c.3749T>A	XP_016864669.1:p.Met1250Lys
XM_017009181.1:c.3749T>A	XP_016864670.1:p.Met1250Lys
XM_017009182.1:c.3749T>A	XP_016864671.1:p.Met1250Lys
XM_017009183.1:c.3749T>A	XP_016864672.1:p.Met1250Lys
XM_017009184.1:c.3749T>A	XP_016864673.1:p.Met1250Lys
XM_017009187.1:c.3749T>A	XP_016864676.1:p.Met1250Lys
XM_024454388.1:c.2654T>A	XP_024310156.1:p.Met885Lys
XM_024454389.1:c.2243T>A	XP_024310157.1:p.Met748Lys
XR_001742034.1:n.3766T>A
XR_001742035.1:n.3766T>A
NM_001369.3:c.3641T>A MANE Select	NP_001360.1:p.Met1214Lys