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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA405789181
Gene: DLL3
HGNC
NCBI
Linked Data
gnomAD v4:
19-39507467-G-T
MyVariant Identifiers:
chr19:g.39998107G>T (hg19)
chr19:g.39507467G>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.39507467G>T , CM000681.2:g.39507467G>T
GRCh38
NC_000019.9:g.39998107G>T , CM000681.1:g.39998107G>T
GRCh37
NC_000019.8:g.44689947G>T
NCBI36
NG_008256.1:g.13551G>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000356433.10:c.1522G>T
MANE Select
ENSP00000348810.4:p.Ala508Ser
ENST00000205143.4:c.1522G>T
ENSP00000205143.3:p.Ala508Ser
ENST00000356433.9:c.1522G>T
ENSP00000348810.4:p.Ala508Ser
NM_016941.3:c.1522G>T
NP_058637.1:p.Ala508Ser
NM_203486.2:c.1522G>T
NP_982353.1:p.Ala508Ser
NM_016941.4:c.1522G>T
NP_058637.1:p.Ala508Ser
NM_203486.3:c.1522G>T
MANE Select
NP_982353.1:p.Ala508Ser
Search 100 bp 5'
Search 100 bp 3'