Canonical Allele Identifier: CA14865594
Gene: PCNT HGNC NCBI

Linked Data

dbSNP Id: rs3788265
gnomAD v2: 21-47833789-G-T
gnomAD v3: 21-46413875-G-T
gnomAD v4: 21-46413875-G-T
MyVariant Identifiers: chr21:g.47833789G>T (hg19) chr21:g.46413875G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46413875G>T , CM000683.2:g.46413875G>T GRCh38
NC_000021.8:g.47833789G>T , CM000683.1:g.47833789G>T GRCh37
NC_000021.7:g.46658217G>T NCBI36
NG_008961.1:g.94754G>T
NG_008961.2:g.94754G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000695527.1:n.495+883G>T
ENST00000695528.1:c.324+883G>T ENSP00000511990.1:n.324+883G>T
ENST00000695529.1:n.324+883G>T
ENST00000695558.1:c.6183+883G>T ENSP00000512015.1:n.6183+883G>T
ENST00000703224.1:c.*5393+883G>T ENSP00000515242.1:n.*5393+883G>T
ENST00000359568.10:c.6150+883G>T MANE Select ENSP00000352572.5:n.6150+883G>T
ENST00000359568.9:c.6150+883G>T ENSP00000352572.5:n.6150+883G>T
ENST00000480896.5:n.6419+883G>T
NM_001315529.1:c.5796+883G>T NP_001302458.1:n.5796+883G>T
NM_006031.5:c.6150+883G>T NP_006022.3:n.6150+883G>T
XM_005261124.3:c.6183+883G>T XP_005261181.1:n.6183+883G>T
XM_011529593.1:c.6261+883G>T XP_011527895.1:n.6261+883G>T
XM_011529594.1:c.6231+883G>T XP_011527896.1:n.6231+883G>T
XM_005261124.5:c.6183+883G>T XP_005261181.1:n.6183+883G>T
XM_011529594.3:c.6231+883G>T XP_011527896.1:n.6231+883G>T
XM_017028362.2:c.6150+883G>T XP_016883851.1:n.6150+883G>T
XM_017028363.1:c.5829+883G>T XP_016883852.1:n.5829+883G>T
XM_024452082.1:c.5067+883G>T XP_024307850.1:n.5067+883G>T
XM_024452083.1:c.3963+883G>T XP_024307851.1:n.3963+883G>T
NM_006031.6:c.6150+883G>T MANE Select NP_006022.3:n.6150+883G>T
NM_001315529.2:c.5796+883G>T NP_001302458.1:n.5796+883G>T
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