Canonical Allele Identifier: CA113905483

Gene: DNAH5

Linked Data

• dbSNP Id: rs374974632
• gnomAD v2: 5-13692204-C-A
• gnomAD v3: 5-13692095-C-A
• gnomAD v4: 5-13692095-C-A
• MyVariant Identifiers: chr5:g.13692204C>A (hg19) ; chr5:g.13692095C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692095C>A , CM000667.2:g.13692095C>A	GRCh38
NC_000005.9:g.13692204C>A , CM000667.1:g.13692204C>A	GRCh37
NC_000005.8:g.13745204C>A	NCBI36
NG_013081.1:g.257386G>T
NG_013081.2:g.257386G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1097G>T
ENST00000265104.5:c.13764G>T MANE Select	ENSP00000265104.4:p.Lys4588Asn
ENST00000681290.1:c.13719G>T	ENSP00000505288.1:p.Lys4573Asn
ENST00000265104.4:c.13764G>T	ENSP00000265104.4:p.Lys4588Asn
NM_001369.2:c.13764G>T	NP_001360.1:p.Lys4588Asn
XM_005248262.2:c.13719G>T	XP_005248319.1:p.Lys4573Asn
XM_005248262.3:c.13872G>T	XP_005248319.2:p.Lys4624Asn
XM_017009177.1:c.13452G>T	XP_016864666.1:p.Lys4484Asn
XM_017009178.1:c.12777G>T	XP_016864667.1:p.Lys4259Asn
XM_017009179.2:c.12777G>T	XP_016864668.1:p.Lys4259Asn
XM_017009185.1:c.8961G>T	XP_016864674.1:p.Lys2987Asn
XM_017009186.1:c.8514G>T	XP_016864675.1:p.Lys2838Asn
XM_017009188.1:c.7851G>T	XP_016864677.1:p.Lys2617Asn
XM_024454388.1:c.12777G>T	XP_024310156.1:p.Lys4259Asn
XM_024454389.1:c.12366G>T	XP_024310157.1:p.Lys4122Asn
NM_001369.3:c.13764G>T MANE Select	NP_001360.1:p.Lys4588Asn