Canonical Allele Identifier: CA359196983

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13708320G>A (hg19) ; chr5:g.13708211G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13708211G>A , CM000667.2:g.13708211G>A	GRCh38
NC_000005.9:g.13708320G>A , CM000667.1:g.13708320G>A	GRCh37
NC_000005.8:g.13761320G>A	NCBI36
NG_013081.1:g.241270C>T
NG_013081.2:g.241270C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.583C>T
ENST00000265104.5:c.13250C>T MANE Select	ENSP00000265104.4:p.Ala4417Val
ENST00000681290.1:c.13205C>T	ENSP00000505288.1:p.Ala4402Val
ENST00000265104.4:c.13250C>T	ENSP00000265104.4:p.Ala4417Val
NM_001369.2:c.13250C>T	NP_001360.1:p.Ala4417Val
XM_005248262.2:c.13205C>T	XP_005248319.1:p.Ala4402Val
XM_005248262.3:c.13358C>T	XP_005248319.2:p.Ala4453Val
XM_017009177.1:c.12938C>T	XP_016864666.1:p.Ala4313Val
XM_017009178.1:c.12263C>T	XP_016864667.1:p.Ala4088Val
XM_017009179.2:c.12263C>T	XP_016864668.1:p.Ala4088Val
XM_017009185.1:c.8447C>T	XP_016864674.1:p.Ala2816Val
XM_017009186.1:c.8000C>T	XP_016864675.1:p.Ala2667Val
XM_017009188.1:c.7337C>T	XP_016864677.1:p.Ala2446Val
XM_024454388.1:c.12263C>T	XP_024310156.1:p.Ala4088Val
XM_024454389.1:c.11852C>T	XP_024310157.1:p.Ala3951Val
NM_001369.3:c.13250C>T MANE Select	NP_001360.1:p.Ala4417Val