Canonical Allele Identifier: CA359197568

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13708372T>G (hg19) ; chr5:g.13708263T>G (hg38)

Genomic Alleles

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

Transcript Alleles

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