Canonical Allele Identifier: CA359189956

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13752299G>A (hg19) ; chr5:g.13752190G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13752190G>A , CM000667.2:g.13752190G>A	GRCh38
NC_000005.9:g.13752299G>A , CM000667.1:g.13752299G>A	GRCh37
NC_000005.8:g.13805299G>A	NCBI36
NG_013081.1:g.197291C>T
NG_013081.2:g.197291C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10972C>T MANE Select	ENSP00000265104.4:p.Pro3658Ser
ENST00000681290.1:c.10927C>T	ENSP00000505288.1:p.Pro3643Ser
ENST00000265104.4:c.10972C>T	ENSP00000265104.4:p.Pro3658Ser
NM_001369.2:c.10972C>T	NP_001360.1:p.Pro3658Ser
XM_005248262.2:c.10927C>T	XP_005248319.1:p.Pro3643Ser
XM_005248262.3:c.11080C>T	XP_005248319.2:p.Pro3694Ser
XM_017009177.1:c.11080C>T	XP_016864666.1:p.Pro3694Ser
XM_017009178.1:c.9985C>T	XP_016864667.1:p.Pro3329Ser
XM_017009179.2:c.9985C>T	XP_016864668.1:p.Pro3329Ser
XM_017009180.1:c.11080C>T	XP_016864669.1:p.Pro3694Ser
XM_017009181.1:c.11080C>T	XP_016864670.1:p.Pro3694Ser
XM_017009182.1:c.11080C>T	XP_016864671.1:p.Pro3694Ser
XM_017009185.1:c.6169C>T	XP_016864674.1:p.Pro2057Ser
XM_017009186.1:c.5722C>T	XP_016864675.1:p.Pro1908Ser
XM_017009188.1:c.5059C>T	XP_016864677.1:p.Pro1687Ser
XM_024454388.1:c.9985C>T	XP_024310156.1:p.Pro3329Ser
XM_024454389.1:c.9574C>T	XP_024310157.1:p.Pro3192Ser
NM_001369.3:c.10972C>T MANE Select	NP_001360.1:p.Pro3658Ser