Canonical Allele Identifier: CA206150

Gene: NSD1

Linked Data

• ClinVar Variation Id: 211715
• ClinVar RCV Id: RCV000192971 ; RCV003891764 ; RCV003231370
• dbSNP Id: rs199639292
• ExAC: 5:176562097 G / A
• gnomAD v2: 5-176562097-G-A
• gnomAD v3: 5-177135096-G-A
• gnomAD v4: 5-177135096-G-A
• MyVariant Identifiers: chr5:g.176562097G>A (hg19) ; chr5:g.177135096G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177135096G>A , CM000667.2:g.177135096G>A	GRCh38
NC_000005.9:g.176562097G>A , CM000667.1:g.176562097G>A	GRCh37
NC_000005.8:g.176494703G>A	NCBI36
NG_009821.1:g.7018G>A , LRG_512:g.7018G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000508896.7:c.-141G>A	ENSP00000423372.3:n.-141G>A
ENST00000347982.9:c.-141G>A	ENSP00000343209.5:n.-141G>A
ENST00000354179.9:c.-141G>A	ENSP00000346111.5:n.-141G>A
ENST00000508896.6:c.-141G>A	ENSP00000423372.2:n.-141G>A
ENST00000510954.6:n.109G>A
ENST00000511258.6:c.-141G>A	ENSP00000426428.2:n.-141G>A
ENST00000686993.1:c.-141G>A	ENSP00000510020.1:n.-141G>A
ENST00000687453.1:c.-8G>A	ENSP00000508426.1:n.-8G>A
ENST00000689326.1:c.-8G>A	ENSP00000509594.1:n.-8G>A
ENST00000689345.1:c.-141G>A	ENSP00000509711.1:n.-141G>A
ENST00000689549.1:n.140G>A
ENST00000439151.7:c.-8G>A MANE Select	ENSP00000395929.2:n.-8G>A
ENST00000347982.8:c.-75G>A	ENSP00000343209.4:n.-75G>A
ENST00000354179.8:c.-75G>A	ENSP00000346111.4:n.-75G>A
ENST00000439151.6:c.-8G>A	ENSP00000395929.2:n.-8G>A
ENST00000508896.5:c.-75G>A	ENSP00000423372.1:n.-75G>A
ENST00000510954.5:c.-75G>A	ENSP00000423982.1:n.-75G>A
ENST00000511258.5:c.-75G>A	ENSP00000426428.1:n.-75G>A
ENST00000512992.1:n.140G>A
ENST00000602285.1:n.165G>A
NM_022455.4:c.-8G>A , LRG_512t1:c.-8G>A	NP_071900.2:n.-8G>A
NM_172349.2:c.-75G>A	NP_758859.1:n.-75G>A
XM_005265959.1:c.-8G>A	XP_005266016.1:n.-8G>A
XM_005265960.1:c.-75G>A	XP_005266017.1:n.-75G>A
XM_005265961.1:c.-75G>A	XP_005266018.1:n.-75G>A
XM_011534610.1:c.-8G>A	XP_011532912.1:n.-8G>A
XM_011534611.1:c.-8G>A	XP_011532913.1:n.-8G>A
XM_011534612.1:c.-8G>A	XP_011532914.1:n.-8G>A
XM_011534614.1:c.-8G>A	XP_011532916.1:n.-8G>A
XM_011534615.1:c.-8G>A	XP_011532917.1:n.-8G>A
XM_011534616.1:c.-8G>A	XP_011532918.1:n.-8G>A
NM_001365684.1:c.-75G>A	NP_001352613.1:n.-75G>A
XM_024446150.1:c.-8G>A	XP_024301918.1:n.-8G>A
XM_024446151.1:c.-8G>A	XP_024301919.1:n.-8G>A
XM_024446152.1:c.-8G>A	XP_024301920.1:n.-8G>A
XM_024446153.1:c.-8G>A	XP_024301921.1:n.-8G>A
XM_024446154.1:c.-8G>A	XP_024301922.1:n.-8G>A
XM_024446155.1:c.-75G>A	XP_024301923.1:n.-75G>A
XM_024446156.1:c.-75G>A	XP_024301924.1:n.-75G>A
XM_024446158.1:c.-75G>A	XP_024301926.1:n.-75G>A
XM_024446160.1:c.-8G>A	XP_024301928.1:n.-8G>A
XM_024446161.1:c.-8G>A	XP_024301929.1:n.-8G>A
NM_022455.5:c.-8G>A MANE Select	NP_071900.2:n.-8G>A
NM_172349.3:c.-75G>A	NP_758859.1:n.-75G>A