Canonical Allele Identifier: CA1248636875
Gene: STON1-GTF2A1L HGNC NCBI
LHCGR HGNC NCBI

Linked Data

dbSNP Id: rs1670185090
gnomAD v4: 2-48755739-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.48755739T>C , CM000664.2:g.48755739T>C GRCh38
NC_000002.11:g.48982878T>C , CM000664.1:g.48982878T>C GRCh37
NC_000002.10:g.48836382T>C NCBI36
NG_008193.1:g.5003A>G
NG_033050.1:g.230815T>C
NG_008193.2:g.5003A>G
NG_033050.2:g.230815T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000402114.6:c.3442-20541T>C (STON1-GTF2A1L) ENSP00000385701.1:n.3442-20541T>C
NM_000233.3:c.-68A>G (LHCGR) NP_000224.2:n.-68A>G
NM_001198593.1:c.3442-20541T>C (STON1-GTF2A1L) NP_001185522.1:n.3442-20541T>C
NM_001198593.2:c.3442-20541T>C (STON1-GTF2A1L) NP_001185522.1:n.3442-20541T>C
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