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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:
CA174523
Gene: SLC16A2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
161647
ClinVar RCV Id:
RCV000149183
dbSNP Id:
rs193920756
MyVariant Identifiers:
chrX:g.73751219G>T (hg19)
chrX:g.74531384G>T (hg38)
PubMed:
PMID:23265383
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.74531384G>T , CM000685.2:g.74531384G>T
GRCh38
NC_000023.10:g.73751219G>T , CM000685.1:g.73751219G>T
GRCh37
NC_000023.9:g.73667944G>T
NCBI36
NG_011641.1:g.115135G>T
NG_011641.2:g.115135G>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000587091.6:c.1451G>T
MANE Select
ENSP00000465734.1:p.Gly484Val
ENST00000636771.1:c.1360G>T
ENST00000587091.5:c.1451G>T
ENSP00000465734.1:p.Gly484Val
ENST00000590447.1:c.662G>T
NM_006517.4:c.1451G>T
NP_006508.2:p.Gly484Val
XM_005262294.1:c.1222G>T
XP_005262351.1:p.Val408Leu
NM_006517.5:c.1451G>T
MANE Select
NP_006508.2:p.Gly484Val
Search 100 bp 5'
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