Canonical Allele Identifier: CA3201355

Gene: DNAH5

Linked Data

• dbSNP Id: rs754177414
• ExAC: 5:13701413 A / G
• gnomAD v2: 5-13701413-A-G
• gnomAD v4: 5-13701304-A-G
• MyVariant Identifiers: chr5:g.13701413A>G (hg19) ; chr5:g.13701304A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13701304A>G , CM000667.2:g.13701304A>G	GRCh38
NC_000005.9:g.13701413A>G , CM000667.1:g.13701413A>G	GRCh37
NC_000005.8:g.13754413A>G	NCBI36
NG_013081.1:g.248177T>C
NG_013081.2:g.248177T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.804T>C
ENST00000265104.5:c.13471T>C MANE Select	ENSP00000265104.4:p.Phe4491Leu
ENST00000681290.1:c.13426T>C	ENSP00000505288.1:p.Phe4476Leu
ENST00000265104.4:c.13471T>C	ENSP00000265104.4:p.Phe4491Leu
NM_001369.2:c.13471T>C	NP_001360.1:p.Phe4491Leu
XM_005248262.2:c.13426T>C	XP_005248319.1:p.Phe4476Leu
XM_005248262.3:c.13579T>C	XP_005248319.2:p.Phe4527Leu
XM_017009177.1:c.13159T>C	XP_016864666.1:p.Phe4387Leu
XM_017009178.1:c.12484T>C	XP_016864667.1:p.Phe4162Leu
XM_017009179.2:c.12484T>C	XP_016864668.1:p.Phe4162Leu
XM_017009185.1:c.8668T>C	XP_016864674.1:p.Phe2890Leu
XM_017009186.1:c.8221T>C	XP_016864675.1:p.Phe2741Leu
XM_017009188.1:c.7558T>C	XP_016864677.1:p.Phe2520Leu
XM_024454388.1:c.12484T>C	XP_024310156.1:p.Phe4162Leu
XM_024454389.1:c.12073T>C	XP_024310157.1:p.Phe4025Leu
NM_001369.3:c.13471T>C MANE Select	NP_001360.1:p.Phe4491Leu