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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:
CA251323
Gene: FUT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
12140
ClinVar RCV Id:
RCV000012923
dbSNP Id:
rs104894687
MyVariant Identifiers:
chr19:g.49254048A>T (hg19)
chr19:g.48750791A>T (hg38)
PubMed:
PMID:7912436
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.48750791A>T , CM000681.2:g.48750791A>T
GRCh38
NC_000019.9:g.49254048A>T , CM000681.1:g.49254048A>T
GRCh37
NC_000019.8:g.53945860A>T
NCBI36
NG_007510.1:g.9600T>A
NG_007510.2:g.9600T>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000645652.2:c.491T>A
MANE Select
ENSP00000494643.1:p.Leu164His
ENST00000310160.7:c.491T>A
ENSP00000312021.3:p.Leu164His
NM_000148.3:c.491T>A
NP_000139.1:p.Leu164His
XM_006723127.1:c.860T>A
XP_006723190.1:p.Leu287His
NM_001329877.1:c.491T>A
NP_001316806.1:p.Leu164His
NM_000148.4:c.491T>A
NP_000139.1:p.Leu164His
NM_001384359.1:c.491T>A
MANE Select
NP_001371288.1:p.Leu164His
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