Canonical Allele Identifier: CA359192249

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13753623A>C (hg19) ; chr5:g.13753514A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13753514A>C , CM000667.2:g.13753514A>C	GRCh38
NC_000005.9:g.13753623A>C , CM000667.1:g.13753623A>C	GRCh37
NC_000005.8:g.13806623A>C	NCBI36
NG_013081.1:g.195967T>G
NG_013081.2:g.195967T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10591T>G MANE Select	ENSP00000265104.4:p.Ser3531Ala
ENST00000681290.1:c.10546T>G	ENSP00000505288.1:p.Ser3516Ala
ENST00000265104.4:c.10591T>G	ENSP00000265104.4:p.Ser3531Ala
NM_001369.2:c.10591T>G	NP_001360.1:p.Ser3531Ala
XM_005248262.2:c.10546T>G	XP_005248319.1:p.Ser3516Ala
XM_005248262.3:c.10699T>G	XP_005248319.2:p.Ser3567Ala
XM_017009177.1:c.10699T>G	XP_016864666.1:p.Ser3567Ala
XM_017009178.1:c.9604T>G	XP_016864667.1:p.Ser3202Ala
XM_017009179.2:c.9604T>G	XP_016864668.1:p.Ser3202Ala
XM_017009180.1:c.10699T>G	XP_016864669.1:p.Ser3567Ala
XM_017009181.1:c.10699T>G	XP_016864670.1:p.Ser3567Ala
XM_017009182.1:c.10699T>G	XP_016864671.1:p.Ser3567Ala
XM_017009185.1:c.5788T>G	XP_016864674.1:p.Ser1930Ala
XM_017009186.1:c.5341T>G	XP_016864675.1:p.Ser1781Ala
XM_017009188.1:c.4678T>G	XP_016864677.1:p.Ser1560Ala
XM_024454388.1:c.9604T>G	XP_024310156.1:p.Ser3202Ala
XM_024454389.1:c.9193T>G	XP_024310157.1:p.Ser3065Ala
NM_001369.3:c.10591T>G MANE Select	NP_001360.1:p.Ser3531Ala