Canonical Allele Identifier: CA16042596
Gene: NSD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 373053
ClinVar RCV Id: RCV000414523
dbSNP Id: rs1057518175
MyVariant Identifiers: chr5:g.176719164G>C (hg19) chr5:g.177292163G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177292163G>C , CM000667.2:g.177292163G>C GRCh38
NC_000005.9:g.176719164G>C , CM000667.1:g.176719164G>C GRCh37
NC_000005.8:g.176651770G>C NCBI36
NG_009821.1:g.164085G>C , LRG_512:g.164085G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000508896.7:c.5590+5G>C ENSP00000423372.3:n.5590+5G>C
ENST00000347982.9:c.5590+5G>C ENSP00000343209.5:n.5590+5G>C
ENST00000354179.9:c.5590+5G>C ENSP00000346111.5:n.5590+5G>C
ENST00000503056.6:c.1105+5G>C ENSP00000424024.2:n.1105+5G>C
ENST00000508029.6:c.1105+5G>C ENSP00000425120.2:n.1105+5G>C
ENST00000685206.1:n.6046+5G>C
ENST00000686385.1:n.879+5G>C
ENST00000686993.1:c.5590+5G>C ENSP00000510020.1:n.5590+5G>C
ENST00000687453.1:c.6154+5G>C ENSP00000508426.1:n.6154+5G>C
ENST00000688613.1:n.5860+5G>C
ENST00000689345.1:c.5590+5G>C ENSP00000509711.1:n.5590+5G>C
ENST00000439151.7:c.6463+5G>C MANE Select ENSP00000395929.2:n.6463+5G>C
ENST00000347982.8:c.5656+5G>C ENSP00000343209.4:n.5656+5G>C
ENST00000354179.8:c.5656+5G>C ENSP00000346111.4:n.5656+5G>C
ENST00000439151.6:c.6463+5G>C ENSP00000395929.2:n.6463+5G>C
NM_022455.4:c.6463+5G>C , LRG_512t1:c.6463+5G>C NP_071900.2:n.6463+5G>C
NM_172349.2:c.5656+5G>C NP_758859.1:n.5656+5G>C
XM_005265959.1:c.6463+5G>C XP_005266016.1:n.6463+5G>C
XM_005265960.1:c.5656+5G>C XP_005266017.1:n.5656+5G>C
XM_005265961.1:c.5656+5G>C XP_005266018.1:n.5656+5G>C
XM_005265962.3:c.1957+5G>C XP_005266019.1:n.1957+5G>C
XM_011534610.1:c.6463+5G>C XP_011532912.1:n.6463+5G>C
XM_011534611.1:c.6463+5G>C XP_011532913.1:n.6463+5G>C
XM_011534612.1:c.6043+5G>C XP_011532914.1:n.6043+5G>C
XM_011534613.1:c.5407+5G>C XP_011532915.1:n.5407+5G>C
XM_011534617.1:c.2197+5G>C XP_011532919.1:n.2197+5G>C
NM_001365684.1:c.5656+5G>C NP_001352613.1:n.5656+5G>C
XM_024446150.1:c.6463+5G>C XP_024301918.1:n.6463+5G>C
XM_024446151.1:c.6463+5G>C XP_024301919.1:n.6463+5G>C
XM_024446152.1:c.6463+5G>C XP_024301920.1:n.6463+5G>C
XM_024446153.1:c.6463+5G>C XP_024301921.1:n.6463+5G>C
XM_024446154.1:c.6043+5G>C XP_024301922.1:n.6043+5G>C
XM_024446155.1:c.5656+5G>C XP_024301923.1:n.5656+5G>C
XM_024446156.1:c.5656+5G>C XP_024301924.1:n.5656+5G>C
XM_024446158.1:c.5656+5G>C XP_024301926.1:n.5656+5G>C
XM_024446159.1:c.5407+5G>C XP_024301927.1:n.5407+5G>C
XM_024446162.1:c.2197+5G>C XP_024301930.1:n.2197+5G>C
XM_024446163.1:c.1957+5G>C XP_024301931.1:n.1957+5G>C
NM_022455.5:c.6463+5G>C MANE Select NP_071900.2:n.6463+5G>C
NM_172349.3:c.5656+5G>C NP_758859.1:n.5656+5G>C
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