Canonical Allele Identifier: CA359205947

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13717431A>C (hg19) ; chr5:g.13717322A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13717322A>C , CM000667.2:g.13717322A>C	GRCh38
NC_000005.9:g.13717431A>C , CM000667.1:g.13717431A>C	GRCh37
NC_000005.8:g.13770431A>C	NCBI36
NG_013081.1:g.232159T>G
NG_013081.2:g.232159T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.12698T>G MANE Select	ENSP00000265104.4:p.Val4233Gly
ENST00000681290.1:c.12653T>G	ENSP00000505288.1:p.Val4218Gly
ENST00000265104.4:c.12698T>G	ENSP00000265104.4:p.Val4233Gly
NM_001369.2:c.12698T>G	NP_001360.1:p.Val4233Gly
XM_005248262.2:c.12653T>G	XP_005248319.1:p.Val4218Gly
XM_005248262.3:c.12806T>G	XP_005248319.2:p.Val4269Gly
XM_017009177.1:c.12806T>G	XP_016864666.1:p.Val4269Gly
XM_017009178.1:c.11711T>G	XP_016864667.1:p.Val3904Gly
XM_017009179.2:c.11711T>G	XP_016864668.1:p.Val3904Gly
XM_017009180.1:c.12806T>G	XP_016864669.1:p.Val4269Gly
XM_017009185.1:c.7895T>G	XP_016864674.1:p.Val2632Gly
XM_017009186.1:c.7448T>G	XP_016864675.1:p.Val2483Gly
XM_017009188.1:c.6785T>G	XP_016864677.1:p.Val2262Gly
XM_024454388.1:c.11711T>G	XP_024310156.1:p.Val3904Gly
XM_024454389.1:c.11300T>G	XP_024310157.1:p.Val3767Gly
NM_001369.3:c.12698T>G MANE Select	NP_001360.1:p.Val4233Gly