Canonical Allele Identifier: CA6872249
Community Standard Title: NM_032656.4(DHX37):c.985G>A (p.Val329Ile)
Gene: DHX37 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.124972595C>T , CM000674.2:g.124972595C>T GRCh38
NC_000012.11:g.125457141C>T , CM000674.1:g.125457141C>T GRCh37
NC_000012.10:g.124023094C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_032656.4:c.985G>A MANE Select NP_116045.2:p.Val329Ile
ENST00000308736.7:c.985G>A MANE Select ENSP00000311135.2:p.Val329Ile
NM_032656.3:c.985G>A NP_116045.2:p.Val329Ile
ENST00000308736.6:c.985G>A ENSP00000311135.2:p.Val329Ile
ENST00000539298.1:n.1085G>A
ENST00000544745.1:c.346G>A ENSP00000439009.1:p.Val116Ile
ENST00000544745.2:c.456G>A
ENST00000679875.1:n.1057G>A
XM_005253590.2:c.985G>A XP_005253647.1:p.Val329Ile
XM_005253590.3:c.985G>A XP_005253647.1:p.Val329Ile
XM_011538597.1:c.985G>A XP_011536899.1:p.Val329Ile
XM_011538598.1:c.985G>A XP_011536900.1:p.Val329Ile
XM_011538598.2:c.985G>A XP_011536900.1:p.Val329Ile
XM_011538599.1:c.985G>A XP_011536901.1:p.Val329Ile
XM_011538600.1:c.985G>A XP_011536902.1:p.Val329Ile
XM_011538600.2:c.985G>A XP_011536902.1:p.Val329Ile
XR_001748819.1:n.1088G>A
XR_001748820.1:n.1088G>A