Canonical Allele Identifier: CA359188688

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13692197C>G (hg19) ; chr5:g.13692088C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692088C>G , CM000667.2:g.13692088C>G	GRCh38
NC_000005.9:g.13692197C>G , CM000667.1:g.13692197C>G	GRCh37
NC_000005.8:g.13745197C>G	NCBI36
NG_013081.1:g.257393G>C
NG_013081.2:g.257393G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1104G>C
ENST00000265104.5:c.13771G>C MANE Select	ENSP00000265104.4:p.Val4591Leu
ENST00000681290.1:c.13726G>C	ENSP00000505288.1:p.Val4576Leu
ENST00000265104.4:c.13771G>C	ENSP00000265104.4:p.Val4591Leu
NM_001369.2:c.13771G>C	NP_001360.1:p.Val4591Leu
XM_005248262.2:c.13726G>C	XP_005248319.1:p.Val4576Leu
XM_005248262.3:c.13879G>C	XP_005248319.2:p.Val4627Leu
XM_017009177.1:c.13459G>C	XP_016864666.1:p.Val4487Leu
XM_017009178.1:c.12784G>C	XP_016864667.1:p.Val4262Leu
XM_017009179.2:c.12784G>C	XP_016864668.1:p.Val4262Leu
XM_017009185.1:c.8968G>C	XP_016864674.1:p.Val2990Leu
XM_017009186.1:c.8521G>C	XP_016864675.1:p.Val2841Leu
XM_017009188.1:c.7858G>C	XP_016864677.1:p.Val2620Leu
XM_024454388.1:c.12784G>C	XP_024310156.1:p.Val4262Leu
XM_024454389.1:c.12373G>C	XP_024310157.1:p.Val4125Leu
NM_001369.3:c.13771G>C MANE Select	NP_001360.1:p.Val4591Leu