Canonical Allele Identifier: CA413762965

Gene: HDX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.84321930C>G , CM000685.2:g.84321930C>G	GRCh38
NC_000023.10:g.83576938C>G , CM000685.1:g.83576938C>G	GRCh37
NC_000023.9:g.83463594C>G	NCBI36
NG_017158.1:g.185550G>C
NG_017158.2:g.185550G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001177479.2:c.2032G>C MANE Select	NP_001170950.1:p.Val678Leu
ENST00000373177.3:c.2032G>C MANE Select	ENSP00000362272.2:p.Val678Leu
NM_001177478.1:c.1858G>C	NP_001170949.1:p.Val620Leu
NM_001177478.2:c.1858G>C	NP_001170949.1:p.Val620Leu
NM_001177479.1:c.2032G>C	NP_001170950.1:p.Val678Leu
NM_144657.4:c.2032G>C	NP_653258.2:p.Val678Leu
NM_144657.5:c.2032G>C	NP_653258.2:p.Val678Leu
ENST00000297977.9:c.2032G>C	ENSP00000297977.5:p.Val678Leu
ENST00000373177.2:c.2032G>C	ENSP00000362272.2:p.Val678Leu
ENST00000506585.6:c.1858G>C	ENSP00000423670.2:p.Val620Leu
XM_006724619.1:c.1858G>C	XP_006724682.1:p.Val620Leu
XM_011530862.1:c.2032G>C	XP_011529164.1:p.Val678Leu
XM_011530863.1:c.2032G>C	XP_011529165.1:p.Val678Leu
XM_011530863.2:c.2032G>C	XP_011529165.1:p.Val678Leu
XM_011530864.1:c.2032G>C	XP_011529166.1:p.Val678Leu
XM_011530865.1:c.1978G>C	XP_011529167.1:p.Val660Leu
XM_017029274.1:c.2032G>C	XP_016884763.1:p.Val678Leu
XM_017029275.1:c.1978G>C	XP_016884764.1:p.Val660Leu
XR_001755651.1:n.2150G>C
XR_001755652.1:n.2150G>C
XR_001755653.1:n.2096G>C
XR_001755654.1:n.2023G>C
XR_938391.1:n.2259G>C
XR_938392.1:n.2259G>C