Canonical Allele Identifier: CA359208417

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13717617T>G (hg19) ; chr5:g.13717508T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13717508T>G , CM000667.2:g.13717508T>G	GRCh38
NC_000005.9:g.13717617T>G , CM000667.1:g.13717617T>G	GRCh37
NC_000005.8:g.13770617T>G	NCBI36
NG_013081.1:g.231973A>C
NG_013081.2:g.231973A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.12512A>C MANE Select	ENSP00000265104.4:p.Asp4171Ala
ENST00000681290.1:c.12467A>C	ENSP00000505288.1:p.Asp4156Ala
ENST00000265104.4:c.12512A>C	ENSP00000265104.4:p.Asp4171Ala
NM_001369.2:c.12512A>C	NP_001360.1:p.Asp4171Ala
XM_005248262.2:c.12467A>C	XP_005248319.1:p.Asp4156Ala
XM_005248262.3:c.12620A>C	XP_005248319.2:p.Asp4207Ala
XM_017009177.1:c.12620A>C	XP_016864666.1:p.Asp4207Ala
XM_017009178.1:c.11525A>C	XP_016864667.1:p.Asp3842Ala
XM_017009179.2:c.11525A>C	XP_016864668.1:p.Asp3842Ala
XM_017009180.1:c.12620A>C	XP_016864669.1:p.Asp4207Ala
XM_017009185.1:c.7709A>C	XP_016864674.1:p.Asp2570Ala
XM_017009186.1:c.7262A>C	XP_016864675.1:p.Asp2421Ala
XM_017009188.1:c.6599A>C	XP_016864677.1:p.Asp2200Ala
XM_024454388.1:c.11525A>C	XP_024310156.1:p.Asp3842Ala
XM_024454389.1:c.11114A>C	XP_024310157.1:p.Asp3705Ala
NM_001369.3:c.12512A>C MANE Select	NP_001360.1:p.Asp4171Ala