Canonical Allele Identifier: CA359196856

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13708300T>G (hg19) ; chr5:g.13708191T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13708191T>G , CM000667.2:g.13708191T>G	GRCh38
NC_000005.9:g.13708300T>G , CM000667.1:g.13708300T>G	GRCh37
NC_000005.8:g.13761300T>G	NCBI36
NG_013081.1:g.241290A>C
NG_013081.2:g.241290A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.603A>C
ENST00000265104.5:c.13270A>C MANE Select	ENSP00000265104.4:p.Met4424Leu
ENST00000681290.1:c.13225A>C	ENSP00000505288.1:p.Met4409Leu
ENST00000265104.4:c.13270A>C	ENSP00000265104.4:p.Met4424Leu
NM_001369.2:c.13270A>C	NP_001360.1:p.Met4424Leu
XM_005248262.2:c.13225A>C	XP_005248319.1:p.Met4409Leu
XM_005248262.3:c.13378A>C	XP_005248319.2:p.Met4460Leu
XM_017009177.1:c.12958A>C	XP_016864666.1:p.Met4320Leu
XM_017009178.1:c.12283A>C	XP_016864667.1:p.Met4095Leu
XM_017009179.2:c.12283A>C	XP_016864668.1:p.Met4095Leu
XM_017009185.1:c.8467A>C	XP_016864674.1:p.Met2823Leu
XM_017009186.1:c.8020A>C	XP_016864675.1:p.Met2674Leu
XM_017009188.1:c.7357A>C	XP_016864677.1:p.Met2453Leu
XM_024454388.1:c.12283A>C	XP_024310156.1:p.Met4095Leu
XM_024454389.1:c.11872A>C	XP_024310157.1:p.Met3958Leu
NM_001369.3:c.13270A>C MANE Select	NP_001360.1:p.Met4424Leu