Canonical Allele Identifier: CA294998

Gene: NSD1

Linked Data

• ClinVar Variation Id: 159384
• ClinVar RCV Id: RCV003231283
• dbSNP Id: rs587784163
• MyVariant Identifiers: chr5:g.176709464A>G (hg19) ; chr5:g.177282463A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177282463A>G , CM000667.2:g.177282463A>G	GRCh38
NC_000005.9:g.176709464A>G , CM000667.1:g.176709464A>G	GRCh37
NC_000005.8:g.176642070A>G	NCBI36
NG_009821.1:g.154385A>G , LRG_512:g.154385A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000508896.7:c.5020-2A>G	ENSP00000423372.3:n.5020-2A>G
ENST00000347982.9:c.5020-2A>G	ENSP00000343209.5:n.5020-2A>G
ENST00000354179.9:c.5020-2A>G	ENSP00000346111.5:n.5020-2A>G
ENST00000503056.6:c.535-2A>G	ENSP00000424024.2:n.535-2A>G
ENST00000508029.6:c.535-2A>G	ENSP00000425120.2:n.535-2A>G
ENST00000685206.1:n.5476-2A>G
ENST00000686993.1:c.5020-2A>G	ENSP00000510020.1:n.5020-2A>G
ENST00000687453.1:c.5584-2A>G	ENSP00000508426.1:n.5584-2A>G
ENST00000688613.1:n.5290-2A>G
ENST00000689345.1:c.5020-2A>G	ENSP00000509711.1:n.5020-2A>G
ENST00000689549.1:n.6040-2A>G
ENST00000692024.1:n.4440A>G
ENST00000439151.7:c.5893-2A>G MANE Select	ENSP00000395929.2:n.5893-2A>G
ENST00000347982.8:c.5086-2A>G	ENSP00000343209.4:n.5086-2A>G
ENST00000354179.8:c.5086-2A>G	ENSP00000346111.4:n.5086-2A>G
ENST00000439151.6:c.5893-2A>G	ENSP00000395929.2:n.5893-2A>G
NM_022455.4:c.5893-2A>G , LRG_512t1:c.5893-2A>G	NP_071900.2:n.5893-2A>G
NM_172349.2:c.5086-2A>G	NP_758859.1:n.5086-2A>G
XM_005265959.1:c.5893-2A>G	XP_005266016.1:n.5893-2A>G
XM_005265960.1:c.5086-2A>G	XP_005266017.1:n.5086-2A>G
XM_005265961.1:c.5086-2A>G	XP_005266018.1:n.5086-2A>G
XM_005265962.3:c.1387-2A>G	XP_005266019.1:n.1387-2A>G
XM_011534610.1:c.5893-2A>G	XP_011532912.1:n.5893-2A>G
XM_011534611.1:c.5893-2A>G	XP_011532913.1:n.5893-2A>G
XM_011534612.1:c.5473-2A>G	XP_011532914.1:n.5473-2A>G
XM_011534613.1:c.4837-2A>G	XP_011532915.1:n.4837-2A>G
XM_011534617.1:c.1627-2A>G	XP_011532919.1:n.1627-2A>G
NM_001365684.1:c.5086-2A>G	NP_001352613.1:n.5086-2A>G
XM_024446150.1:c.5893-2A>G	XP_024301918.1:n.5893-2A>G
XM_024446151.1:c.5893-2A>G	XP_024301919.1:n.5893-2A>G
XM_024446152.1:c.5893-2A>G	XP_024301920.1:n.5893-2A>G
XM_024446153.1:c.5893-2A>G	XP_024301921.1:n.5893-2A>G
XM_024446154.1:c.5473-2A>G	XP_024301922.1:n.5473-2A>G
XM_024446155.1:c.5086-2A>G	XP_024301923.1:n.5086-2A>G
XM_024446156.1:c.5086-2A>G	XP_024301924.1:n.5086-2A>G
XM_024446158.1:c.5086-2A>G	XP_024301926.1:n.5086-2A>G
XM_024446159.1:c.4837-2A>G	XP_024301927.1:n.4837-2A>G
XM_024446162.1:c.1627-2A>G	XP_024301930.1:n.1627-2A>G
XM_024446163.1:c.1387-2A>G	XP_024301931.1:n.1387-2A>G
NM_022455.5:c.5893-2A>G MANE Select	NP_071900.2:n.5893-2A>G
NM_172349.3:c.5086-2A>G	NP_758859.1:n.5086-2A>G