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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:
CA350592064
Gene: WNT10A
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr2:g.219757893G>T (hg19)
chr2:g.218893171G>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.218893171G>T , CM000664.2:g.218893171G>T
GRCh38
NC_000002.11:g.219757893G>T , CM000664.1:g.219757893G>T
GRCh37
NC_000002.10:g.219466137G>T
NCBI36
NG_012179.1:g.17639G>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000258411.8:c.1154G>T
MANE Select
ENSP00000258411.3:p.Arg385Leu
ENST00000258411.7:c.1154G>T
ENSP00000258411.3:p.Arg385Leu
NM_025216.2:c.1154G>T
NP_079492.2:p.Arg385Leu
XM_011511928.1:c.1103G>T
XP_011510230.1:p.Arg368Leu
XM_011511929.1:c.1058G>T
XP_011510231.1:p.Arg353Leu
XM_011511930.1:c.774G>T
XP_011510232.1:p.Ala258=
XM_011511929.2:c.1058G>T
XP_011510231.1:p.Arg353Leu
NM_025216.3:c.1154G>T
MANE Select
NP_079492.2:p.Arg385Leu
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