Canonical Allele Identifier: CA3202550

Gene: DNAH5

Linked Data

• dbSNP Id: rs754793169
• ExAC: 5:13771056 T / G
• gnomAD v2: 5-13771056-T-G
• gnomAD v3: 5-13770947-T-G
• gnomAD v4: 5-13770947-T-G
• MyVariant Identifiers: chr5:g.13771056T>G (hg19) ; chr5:g.13770947T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13770947T>G , CM000667.2:g.13770947T>G	GRCh38
NC_000005.9:g.13771056T>G , CM000667.1:g.13771056T>G	GRCh37
NC_000005.8:g.13824056T>G	NCBI36
NG_013081.1:g.178534A>C
NG_013081.2:g.178534A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9407A>C MANE Select	ENSP00000265104.4:p.Asp3136Ala
ENST00000681290.1:c.9362A>C	ENSP00000505288.1:p.Asp3121Ala
ENST00000265104.4:c.9407A>C	ENSP00000265104.4:p.Asp3136Ala
ENST00000504001.3:n.119A>C
NM_001369.2:c.9407A>C	NP_001360.1:p.Asp3136Ala
XM_005248262.2:c.9362A>C	XP_005248319.1:p.Asp3121Ala
XM_005248262.3:c.9515A>C	XP_005248319.2:p.Asp3172Ala
XM_017009177.1:c.9515A>C	XP_016864666.1:p.Asp3172Ala
XM_017009178.1:c.8420A>C	XP_016864667.1:p.Asp2807Ala
XM_017009179.2:c.8420A>C	XP_016864668.1:p.Asp2807Ala
XM_017009180.1:c.9515A>C	XP_016864669.1:p.Asp3172Ala
XM_017009181.1:c.9515A>C	XP_016864670.1:p.Asp3172Ala
XM_017009182.1:c.9515A>C	XP_016864671.1:p.Asp3172Ala
XM_017009183.1:c.9515A>C	XP_016864672.1:p.Asp3172Ala
XM_017009185.1:c.4604A>C	XP_016864674.1:p.Asp1535Ala
XM_017009186.1:c.4157A>C	XP_016864675.1:p.Asp1386Ala
XM_017009188.1:c.3494A>C	XP_016864677.1:p.Asp1165Ala
XM_024454388.1:c.8420A>C	XP_024310156.1:p.Asp2807Ala
XM_024454389.1:c.8009A>C	XP_024310157.1:p.Asp2670Ala
NM_001369.3:c.9407A>C MANE Select	NP_001360.1:p.Asp3136Ala