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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:
CA16609278
Gene: DMRT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
393463
ClinVar RCV Id:
RCV000445388
dbSNP Id:
rs1057519638
gnomAD v4:
9-842170-G-T
MyVariant Identifiers:
chr9:g.842170G>T (hg19)
chr9:g.842170G>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.842170G>T , CM000671.2:g.842170G>T
GRCh38
NC_000009.11:g.842170G>T , CM000671.1:g.842170G>T
GRCh37
NC_000009.10:g.832170G>T
NCBI36
NG_009221.1:g.5481G>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000382276.8:c.332G>T
MANE Select
ENSP00000371711.3:p.Arg111Met
ENST00000382276.7:c.332G>T
ENSP00000371711.3:p.Arg111Met
ENST00000564322.1:n.481G>T
NM_021951.2:c.332G>T
NP_068770.2:p.Arg111Met
XM_006716732.1:c.332G>T
XP_006716795.1:p.Arg111Met
XM_017014375.1:c.332G>T
XP_016869864.1:p.Arg111Met
NM_021951.3:c.332G>T
MANE Select
NP_068770.2:p.Arg111Met
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