Canonical Allele Identifier: CA359208667

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13776655G>C (hg19) ; chr5:g.13776546G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13776546G>C , CM000667.2:g.13776546G>C	GRCh38
NC_000005.9:g.13776655G>C , CM000667.1:g.13776655G>C	GRCh37
NC_000005.8:g.13829655G>C	NCBI36
NG_013081.1:g.172935C>G
NG_013081.2:g.172935C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9266C>G MANE Select	ENSP00000265104.4:p.Ser3089Trp
ENST00000681290.1:c.9221C>G	ENSP00000505288.1:p.Ser3074Trp
ENST00000265104.4:c.9266C>G	ENSP00000265104.4:p.Ser3089Trp
NM_001369.2:c.9266C>G	NP_001360.1:p.Ser3089Trp
XM_005248262.2:c.9221C>G	XP_005248319.1:p.Ser3074Trp
XM_005248262.3:c.9374C>G	XP_005248319.2:p.Ser3125Trp
XM_017009177.1:c.9374C>G	XP_016864666.1:p.Ser3125Trp
XM_017009178.1:c.8279C>G	XP_016864667.1:p.Ser2760Trp
XM_017009179.2:c.8279C>G	XP_016864668.1:p.Ser2760Trp
XM_017009180.1:c.9374C>G	XP_016864669.1:p.Ser3125Trp
XM_017009181.1:c.9374C>G	XP_016864670.1:p.Ser3125Trp
XM_017009182.1:c.9374C>G	XP_016864671.1:p.Ser3125Trp
XM_017009183.1:c.9374C>G	XP_016864672.1:p.Ser3125Trp
XM_017009185.1:c.4463C>G	XP_016864674.1:p.Ser1488Trp
XM_017009186.1:c.4016C>G	XP_016864675.1:p.Ser1339Trp
XM_017009188.1:c.3353C>G	XP_016864677.1:p.Ser1118Trp
XM_024454388.1:c.8279C>G	XP_024310156.1:p.Ser2760Trp
XM_024454389.1:c.7868C>G	XP_024310157.1:p.Ser2623Trp
NM_001369.3:c.9266C>G MANE Select	NP_001360.1:p.Ser3089Trp