Canonical Allele Identifier: CA359206099

Gene: DNAH5

Linked Data

• dbSNP Id: rs1263149862
• gnomAD v2: 5-13901572-G-A
• gnomAD v4: 5-13901463-G-A
• MyVariant Identifiers: chr5:g.13901572G>A (hg19) ; chr5:g.13901463G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13901463G>A , CM000667.2:g.13901463G>A	GRCh38
NC_000005.9:g.13901572G>A , CM000667.1:g.13901572G>A	GRCh37
NC_000005.8:g.13954572G>A	NCBI36
NG_013081.1:g.48018C>T
NG_013081.2:g.48018C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.1841C>T MANE Select	ENSP00000265104.4:p.Pro614Leu
ENST00000681290.1:c.1796C>T	ENSP00000505288.1:p.Pro599Leu
ENST00000265104.4:c.1841C>T	ENSP00000265104.4:p.Pro614Leu
NM_001369.2:c.1841C>T	NP_001360.1:p.Pro614Leu
XM_005248262.2:c.1796C>T	XP_005248319.1:p.Pro599Leu
XM_011513990.1:c.1841C>T	XP_011512292.1:p.Pro614Leu
XR_925598.1:n.2048C>T
XM_005248262.3:c.1949C>T	XP_005248319.2:p.Pro650Leu
XM_017009177.1:c.1949C>T	XP_016864666.1:p.Pro650Leu
XM_017009178.1:c.854C>T	XP_016864667.1:p.Pro285Leu
XM_017009179.2:c.854C>T	XP_016864668.1:p.Pro285Leu
XM_017009180.1:c.1949C>T	XP_016864669.1:p.Pro650Leu
XM_017009181.1:c.1949C>T	XP_016864670.1:p.Pro650Leu
XM_017009182.1:c.1949C>T	XP_016864671.1:p.Pro650Leu
XM_017009183.1:c.1949C>T	XP_016864672.1:p.Pro650Leu
XM_017009184.1:c.1949C>T	XP_016864673.1:p.Pro650Leu
XM_017009187.1:c.1949C>T	XP_016864676.1:p.Pro650Leu
XM_024454388.1:c.854C>T	XP_024310156.1:p.Pro285Leu
XM_024454389.1:c.443C>T	XP_024310157.1:p.Pro148Leu
XR_001742034.1:n.1966C>T
XR_001742035.1:n.1966C>T
NM_001369.3:c.1841C>T MANE Select	NP_001360.1:p.Pro614Leu