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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:
CA5260897
Gene: SLC27A4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2970199
ClinVar RCV Id:
RCV003829853
dbSNP Id:
rs773606505
ExAC:
9:131107557 C / T
gnomAD v2:
9-131107557-C-T
gnomAD v3:
9-128345278-C-T
gnomAD v4:
9-128345278-C-T
MyVariant Identifiers:
chr9:g.131107557C>T (hg19)
chr9:g.128345278C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.128345278C>T , CM000671.2:g.128345278C>T
GRCh38
NC_000009.11:g.131107557C>T , CM000671.1:g.131107557C>T
GRCh37
NC_000009.10:g.130147378C>T
NCBI36
NG_017057.1:g.9719C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000300456.5:c.285C>T
MANE Select
ENSP00000300456.3:p.Phe95=
ENST00000300456.4:c.285C>T
ENSP00000300456.3:p.Phe95=
ENST00000372870.5:c.231+1997C>T
ENSP00000361961.1:n.231+1997C>T
NM_005094.3:c.285C>T
NP_005085.2:p.Phe95=
XM_017014222.1:c.285C>T
XP_016869711.1:p.Phe95=
XM_024447391.1:c.285C>T
XP_024303159.1:p.Phe95=
NM_005094.4:c.285C>T
MANE Select
NP_005085.2:p.Phe95=
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