Canonical Allele Identifier: CA16604873
Gene: NSD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 379620
ClinVar RCV Id: RCV000435432
dbSNP Id: rs1057520671
MyVariant Identifiers: chr5:g.176678855G>A (hg19) chr5:g.177251854G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177251854G>A , CM000667.2:g.177251854G>A GRCh38
NC_000005.9:g.176678855G>A , CM000667.1:g.176678855G>A GRCh37
NC_000005.8:g.176611461G>A NCBI36
NG_009821.1:g.123776G>A , LRG_512:g.123776G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000508896.7:c.3892+1G>A ENSP00000423372.3:n.3892+1G>A
ENST00000347982.9:c.3892+1G>A ENSP00000343209.5:n.3892+1G>A
ENST00000354179.9:c.3892+1G>A ENSP00000346111.5:n.3892+1G>A
ENST00000685206.1:n.4348+1G>A
ENST00000686993.1:c.3892+1G>A ENSP00000510020.1:n.3892+1G>A
ENST00000687453.1:c.4456+1G>A ENSP00000508426.1:n.4456+1G>A
ENST00000688613.1:n.4162+1G>A
ENST00000689345.1:c.3892+1G>A ENSP00000509711.1:n.3892+1G>A
ENST00000689549.1:n.4912+1G>A
ENST00000439151.7:c.4765+1G>A MANE Select ENSP00000395929.2:n.4765+1G>A
ENST00000347982.8:c.3958+1G>A ENSP00000343209.4:n.3958+1G>A
ENST00000354179.8:c.3958+1G>A ENSP00000346111.4:n.3958+1G>A
ENST00000439151.6:c.4765+1G>A ENSP00000395929.2:n.4765+1G>A
NM_022455.4:c.4765+1G>A , LRG_512t1:c.4765+1G>A NP_071900.2:n.4765+1G>A
NM_172349.2:c.3958+1G>A NP_758859.1:n.3958+1G>A
XM_005265959.1:c.4765+1G>A XP_005266016.1:n.4765+1G>A
XM_005265960.1:c.3958+1G>A XP_005266017.1:n.3958+1G>A
XM_005265961.1:c.3958+1G>A XP_005266018.1:n.3958+1G>A
XM_005265962.3:c.259+1G>A XP_005266019.1:n.259+1G>A
XM_011534610.1:c.4765+1G>A XP_011532912.1:n.4765+1G>A
XM_011534611.1:c.4765+1G>A XP_011532913.1:n.4765+1G>A
XM_011534612.1:c.4345+1G>A XP_011532914.1:n.4345+1G>A
XM_011534613.1:c.3709+1G>A XP_011532915.1:n.3709+1G>A
XM_011534614.1:c.4765+1G>A XP_011532916.1:n.4765+1G>A
XM_011534617.1:c.499+1G>A XP_011532919.1:n.499+1G>A
NM_001365684.1:c.3958+1G>A NP_001352613.1:n.3958+1G>A
XM_024446150.1:c.4765+1G>A XP_024301918.1:n.4765+1G>A
XM_024446151.1:c.4765+1G>A XP_024301919.1:n.4765+1G>A
XM_024446152.1:c.4765+1G>A XP_024301920.1:n.4765+1G>A
XM_024446153.1:c.4765+1G>A XP_024301921.1:n.4765+1G>A
XM_024446154.1:c.4345+1G>A XP_024301922.1:n.4345+1G>A
XM_024446155.1:c.3958+1G>A XP_024301923.1:n.3958+1G>A
XM_024446156.1:c.3958+1G>A XP_024301924.1:n.3958+1G>A
XM_024446158.1:c.3958+1G>A XP_024301926.1:n.3958+1G>A
XM_024446159.1:c.3709+1G>A XP_024301927.1:n.3709+1G>A
XM_024446160.1:c.4765+1G>A XP_024301928.1:n.4765+1G>A
XM_024446162.1:c.499+1G>A XP_024301930.1:n.499+1G>A
XM_024446163.1:c.259+1G>A XP_024301931.1:n.259+1G>A
NM_022455.5:c.4765+1G>A MANE Select NP_071900.2:n.4765+1G>A
NM_172349.3:c.3958+1G>A NP_758859.1:n.3958+1G>A
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