Canonical Allele Identifier: CA359208236

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13776611C>A (hg19) ; chr5:g.13776502C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13776502C>A , CM000667.2:g.13776502C>A	GRCh38
NC_000005.9:g.13776611C>A , CM000667.1:g.13776611C>A	GRCh37
NC_000005.8:g.13829611C>A	NCBI36
NG_013081.1:g.172979G>T
NG_013081.2:g.172979G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9310G>T MANE Select	ENSP00000265104.4:p.Ala3104Ser
ENST00000681290.1:c.9265G>T	ENSP00000505288.1:p.Ala3089Ser
ENST00000265104.4:c.9310G>T	ENSP00000265104.4:p.Ala3104Ser
NM_001369.2:c.9310G>T	NP_001360.1:p.Ala3104Ser
XM_005248262.2:c.9265G>T	XP_005248319.1:p.Ala3089Ser
XM_005248262.3:c.9418G>T	XP_005248319.2:p.Ala3140Ser
XM_017009177.1:c.9418G>T	XP_016864666.1:p.Ala3140Ser
XM_017009178.1:c.8323G>T	XP_016864667.1:p.Ala2775Ser
XM_017009179.2:c.8323G>T	XP_016864668.1:p.Ala2775Ser
XM_017009180.1:c.9418G>T	XP_016864669.1:p.Ala3140Ser
XM_017009181.1:c.9418G>T	XP_016864670.1:p.Ala3140Ser
XM_017009182.1:c.9418G>T	XP_016864671.1:p.Ala3140Ser
XM_017009183.1:c.9418G>T	XP_016864672.1:p.Ala3140Ser
XM_017009185.1:c.4507G>T	XP_016864674.1:p.Ala1503Ser
XM_017009186.1:c.4060G>T	XP_016864675.1:p.Ala1354Ser
XM_017009188.1:c.3397G>T	XP_016864677.1:p.Ala1133Ser
XM_024454388.1:c.8323G>T	XP_024310156.1:p.Ala2775Ser
XM_024454389.1:c.7912G>T	XP_024310157.1:p.Ala2638Ser
NM_001369.3:c.9310G>T MANE Select	NP_001360.1:p.Ala3104Ser