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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:
CA393169228
Gene: CYP1A2
HGNC
NCBI
Linked Data
dbSNP Id:
rs1328210184
gnomAD v2:
15-75047170-G-A
gnomAD v4:
15-74754829-G-A
MyVariant Identifiers:
chr15:g.75047170G>A (hg19)
chr15:g.74754829G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.74754829G>A , CM000677.2:g.74754829G>A
GRCh38
NC_000015.9:g.75047170G>A , CM000677.1:g.75047170G>A
GRCh37
NC_000015.8:g.72834223G>A
NCBI36
NG_008431.1:g.37288G>A
NG_008431.2:g.37288G>A
NG_061543.1:g.10985G>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000343932.5:c.1292G>A
MANE Select
ENSP00000342007.4:p.Arg431Gln
ENST00000343932.4:c.1292G>A
ENSP00000342007.4:p.Arg431Gln
NM_000761.4:c.1292G>A
NP_000752.2:p.Arg431Gln
NM_000761.5:c.1292G>A
MANE Select
NP_000752.2:p.Arg431Gln
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