Canonical Allele Identifier: CA16609526
Gene: DHX37 HGNC NCBI

Linked Data

ClinVar Variation Id: 402139
dbSNP Id: rs1060499737

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.124968903G>T , CM000674.2:g.124968903G>T GRCh38
NC_000012.11:g.125453449G>T , CM000674.1:g.125453449G>T GRCh37
NC_000012.10:g.124019402G>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000308736.7:c.1257C>A MANE Select ENSP00000311135.2:p.Asn419Lys
ENST00000544745.2:c.728C>A
ENST00000679875.1:n.1329C>A
ENST00000308736.6:c.1257C>A ENSP00000311135.2:p.Asn419Lys
ENST00000539298.1:n.1357C>A
ENST00000544745.1:c.618C>A ENSP00000439009.1:p.Asn206Lys
NM_032656.3:c.1257C>A NP_116045.2:p.Asn419Lys
XM_005253590.2:c.1257C>A XP_005253647.1:p.Asn419Lys
XM_011538597.1:c.1257C>A XP_011536899.1:p.Asn419Lys
XM_011538598.1:c.1257C>A XP_011536900.1:p.Asn419Lys
XM_011538599.1:c.1257C>A XP_011536901.1:p.Asn419Lys
XM_011538600.1:c.1257C>A XP_011536902.1:p.Asn419Lys
XM_005253590.3:c.1257C>A XP_005253647.1:p.Asn419Lys
XM_011538598.2:c.1257C>A XP_011536900.1:p.Asn419Lys
XM_011538600.2:c.1257C>A XP_011536902.1:p.Asn419Lys
XR_001748819.1:n.1360C>A
XR_001748820.1:n.1360C>A
NM_032656.4:c.1257C>A MANE Select NP_116045.2:p.Asn419Lys