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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:
CA367069692
Gene: HOXA13
HGNC
NCBI
Linked Data
dbSNP Id:
rs2115471178
MyVariant Identifiers:
chr7:g.27237893C>T (hg19)
chr7:g.27198274C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.27198274C>T , CM000669.2:g.27198274C>T
GRCh38
NC_000007.13:g.27237893C>T , CM000669.1:g.27237893C>T
GRCh37
NC_000007.12:g.27204418C>T
NCBI36
NG_008181.1:g.6833G>A
NG_008181.2:g.6833G>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000649031.1:c.1091G>A
MANE Select
ENSP00000497112.1:p.Arg364Gln
ENST00000222753.5:c.1091G>A
ENSP00000222753.4:p.Arg364Gln
NM_000522.4:c.1091G>A
NP_000513.2:p.Arg364Gln
XM_011515344.1:c.1091G>A
XP_011513646.1:p.Arg364Gln
NM_000522.5:c.1091G>A
MANE Select
NP_000513.2:p.Arg364Gln
Search 100 bp 5'
Search 100 bp 3'