Canonical Allele Identifier: CA359207775

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13776554C>G (hg19) ; chr5:g.13776445C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13776445C>G , CM000667.2:g.13776445C>G	GRCh38
NC_000005.9:g.13776554C>G , CM000667.1:g.13776554C>G	GRCh37
NC_000005.8:g.13829554C>G	NCBI36
NG_013081.1:g.173036G>C
NG_013081.2:g.173036G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9367G>C MANE Select	ENSP00000265104.4:p.Val3123Leu
ENST00000681290.1:c.9322G>C	ENSP00000505288.1:p.Val3108Leu
ENST00000265104.4:c.9367G>C	ENSP00000265104.4:p.Val3123Leu
NM_001369.2:c.9367G>C	NP_001360.1:p.Val3123Leu
XM_005248262.2:c.9322G>C	XP_005248319.1:p.Val3108Leu
XM_005248262.3:c.9475G>C	XP_005248319.2:p.Val3159Leu
XM_017009177.1:c.9475G>C	XP_016864666.1:p.Val3159Leu
XM_017009178.1:c.8380G>C	XP_016864667.1:p.Val2794Leu
XM_017009179.2:c.8380G>C	XP_016864668.1:p.Val2794Leu
XM_017009180.1:c.9475G>C	XP_016864669.1:p.Val3159Leu
XM_017009181.1:c.9475G>C	XP_016864670.1:p.Val3159Leu
XM_017009182.1:c.9475G>C	XP_016864671.1:p.Val3159Leu
XM_017009183.1:c.9475G>C	XP_016864672.1:p.Val3159Leu
XM_017009185.1:c.4564G>C	XP_016864674.1:p.Val1522Leu
XM_017009186.1:c.4117G>C	XP_016864675.1:p.Val1373Leu
XM_017009188.1:c.3454G>C	XP_016864677.1:p.Val1152Leu
XM_024454388.1:c.8380G>C	XP_024310156.1:p.Val2794Leu
XM_024454389.1:c.7969G>C	XP_024310157.1:p.Val2657Leu
NM_001369.3:c.9367G>C MANE Select	NP_001360.1:p.Val3123Leu