Canonical Allele Identifier: CA359209070

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13776703T>G (hg19) ; chr5:g.13776594T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13776594T>G , CM000667.2:g.13776594T>G	GRCh38
NC_000005.9:g.13776703T>G , CM000667.1:g.13776703T>G	GRCh37
NC_000005.8:g.13829703T>G	NCBI36
NG_013081.1:g.172887A>C
NG_013081.2:g.172887A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9218A>C MANE Select	ENSP00000265104.4:p.Tyr3073Ser
ENST00000681290.1:c.9173A>C	ENSP00000505288.1:p.Tyr3058Ser
ENST00000265104.4:c.9218A>C	ENSP00000265104.4:p.Tyr3073Ser
NM_001369.2:c.9218A>C	NP_001360.1:p.Tyr3073Ser
XM_005248262.2:c.9173A>C	XP_005248319.1:p.Tyr3058Ser
XM_005248262.3:c.9326A>C	XP_005248319.2:p.Tyr3109Ser
XM_017009177.1:c.9326A>C	XP_016864666.1:p.Tyr3109Ser
XM_017009178.1:c.8231A>C	XP_016864667.1:p.Tyr2744Ser
XM_017009179.2:c.8231A>C	XP_016864668.1:p.Tyr2744Ser
XM_017009180.1:c.9326A>C	XP_016864669.1:p.Tyr3109Ser
XM_017009181.1:c.9326A>C	XP_016864670.1:p.Tyr3109Ser
XM_017009182.1:c.9326A>C	XP_016864671.1:p.Tyr3109Ser
XM_017009183.1:c.9326A>C	XP_016864672.1:p.Tyr3109Ser
XM_017009185.1:c.4415A>C	XP_016864674.1:p.Tyr1472Ser
XM_017009186.1:c.3968A>C	XP_016864675.1:p.Tyr1323Ser
XM_017009188.1:c.3305A>C	XP_016864677.1:p.Tyr1102Ser
XM_024454388.1:c.8231A>C	XP_024310156.1:p.Tyr2744Ser
XM_024454389.1:c.7820A>C	XP_024310157.1:p.Tyr2607Ser
NM_001369.3:c.9218A>C MANE Select	NP_001360.1:p.Tyr3073Ser