Canonical Allele Identifier: CA359197561

Gene: DNAH5

Linked Data

• dbSNP Id: rs1743050936
• MyVariant Identifiers: chr5:g.13708372T>A (hg19) ; chr5:g.13708263T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13708263T>A , CM000667.2:g.13708263T>A	GRCh38
NC_000005.9:g.13708372T>A , CM000667.1:g.13708372T>A	GRCh37
NC_000005.8:g.13761372T>A	NCBI36
NG_013081.1:g.241218A>T
NG_013081.2:g.241218A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.531A>T
ENST00000265104.5:c.13198A>T MANE Select	ENSP00000265104.4:p.Met4400Leu
ENST00000681290.1:c.13153A>T	ENSP00000505288.1:p.Met4385Leu
ENST00000265104.4:c.13198A>T	ENSP00000265104.4:p.Met4400Leu
NM_001369.2:c.13198A>T	NP_001360.1:p.Met4400Leu
XM_005248262.2:c.13153A>T	XP_005248319.1:p.Met4385Leu
XM_005248262.3:c.13306A>T	XP_005248319.2:p.Met4436Leu
XM_017009177.1:c.12886A>T	XP_016864666.1:p.Met4296Leu
XM_017009178.1:c.12211A>T	XP_016864667.1:p.Met4071Leu
XM_017009179.2:c.12211A>T	XP_016864668.1:p.Met4071Leu
XM_017009185.1:c.8395A>T	XP_016864674.1:p.Met2799Leu
XM_017009186.1:c.7948A>T	XP_016864675.1:p.Met2650Leu
XM_017009188.1:c.7285A>T	XP_016864677.1:p.Met2429Leu
XM_024454388.1:c.12211A>T	XP_024310156.1:p.Met4071Leu
XM_024454389.1:c.11800A>T	XP_024310157.1:p.Met3934Leu
NM_001369.3:c.13198A>T MANE Select	NP_001360.1:p.Met4400Leu