Canonical Allele Identifier: CA248219
Gene: NSD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 199166
dbSNP Id: rs775759198

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177244191A>G , CM000667.2:g.177244191A>G GRCh38
NC_000005.9:g.176671192A>G , CM000667.1:g.176671192A>G GRCh37
NC_000005.8:g.176603798A>G NCBI36
NG_009821.1:g.116113A>G , LRG_512:g.116113A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000508896.7:c.3430-4A>G ENSP00000423372.3:n.3430-4A>G
ENST00000347982.9:c.3430-4A>G ENSP00000343209.5:n.3430-4A>G
ENST00000354179.9:c.3430-4A>G ENSP00000346111.5:n.3430-4A>G
ENST00000685206.1:n.3886-4A>G
ENST00000686993.1:c.3430-4A>G ENSP00000510020.1:n.3430-4A>G
ENST00000687453.1:c.3994-4A>G ENSP00000508426.1:n.3994-4A>G
ENST00000688613.1:n.3700-4A>G
ENST00000689326.1:c.*48-4A>G ENSP00000509594.1:n.*48-4A>G
ENST00000689345.1:c.3430-4A>G ENSP00000509711.1:n.3430-4A>G
ENST00000689549.1:n.4450-4A>G
ENST00000439151.7:c.4303-4A>G MANE Select ENSP00000395929.2:n.4303-4A>G
ENST00000347982.8:c.3496-4A>G ENSP00000343209.4:n.3496-4A>G
ENST00000354179.8:c.3496-4A>G ENSP00000346111.4:n.3496-4A>G
ENST00000439151.6:c.4303-4A>G ENSP00000395929.2:n.4303-4A>G
NM_022455.4:c.4303-4A>G , LRG_512t1:c.4303-4A>G NP_071900.2:n.4303-4A>G
NM_172349.2:c.3496-4A>G NP_758859.1:n.3496-4A>G
XM_005265959.1:c.4303-4A>G XP_005266016.1:n.4303-4A>G
XM_005265960.1:c.3496-4A>G XP_005266017.1:n.3496-4A>G
XM_005265961.1:c.3496-4A>G XP_005266018.1:n.3496-4A>G
XM_011534610.1:c.4303-4A>G XP_011532912.1:n.4303-4A>G
XM_011534611.1:c.4303-4A>G XP_011532913.1:n.4303-4A>G
XM_011534612.1:c.3883-4A>G XP_011532914.1:n.3883-4A>G
XM_011534613.1:c.3247-4A>G XP_011532915.1:n.3247-4A>G
XM_011534614.1:c.4303-4A>G XP_011532916.1:n.4303-4A>G
XM_011534615.1:c.4303-4A>G XP_011532917.1:n.4303-4A>G
XM_011534616.1:c.*48-4A>G XP_011532918.1:n.*48-4A>G
XM_011534617.1:c.37-4A>G XP_011532919.1:n.37-4A>G
NM_001365684.1:c.3496-4A>G NP_001352613.1:n.3496-4A>G
XM_024446150.1:c.4303-4A>G XP_024301918.1:n.4303-4A>G
XM_024446151.1:c.4303-4A>G XP_024301919.1:n.4303-4A>G
XM_024446152.1:c.4303-4A>G XP_024301920.1:n.4303-4A>G
XM_024446153.1:c.4303-4A>G XP_024301921.1:n.4303-4A>G
XM_024446154.1:c.3883-4A>G XP_024301922.1:n.3883-4A>G
XM_024446155.1:c.3496-4A>G XP_024301923.1:n.3496-4A>G
XM_024446156.1:c.3496-4A>G XP_024301924.1:n.3496-4A>G
XM_024446158.1:c.3496-4A>G XP_024301926.1:n.3496-4A>G
XM_024446159.1:c.3247-4A>G XP_024301927.1:n.3247-4A>G
XM_024446160.1:c.4303-4A>G XP_024301928.1:n.4303-4A>G
XM_024446161.1:c.4303-4A>G XP_024301929.1:n.4303-4A>G
XM_024446162.1:c.37-4A>G XP_024301930.1:n.37-4A>G
NM_022455.5:c.4303-4A>G MANE Select NP_071900.2:n.4303-4A>G
NM_172349.3:c.3496-4A>G NP_758859.1:n.3496-4A>G