Canonical Allele Identifier: CA2576963773
Gene: LHCGR HGNC NCBI
STON1-GTF2A1L HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.48755727G>A , CM000664.2:g.48755727G>A GRCh38
NC_000002.11:g.48982866G>A , CM000664.1:g.48982866G>A GRCh37
NC_000002.10:g.48836370G>A NCBI36
NG_008193.1:g.5015C>T
NG_033050.1:g.230803G>A
NG_008193.2:g.5015C>T
NG_033050.2:g.230803G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000401907.5:c.-56C>T (LHCGR) ENSP00000385406.1:n.-56C>T
ENST00000402114.6:c.3442-20553G>A (STON1-GTF2A1L) ENSP00000385701.1:n.3442-20553G>A
ENST00000403273.5:c.-56C>T (LHCGR) ENSP00000385847.1:n.-56C>T
NM_000233.3:c.-56C>T (LHCGR) NP_000224.2:n.-56C>T
NM_001198593.1:c.3442-20553G>A (STON1-GTF2A1L) NP_001185522.1:n.3442-20553G>A
NM_001198593.2:c.3442-20553G>A (STON1-GTF2A1L) NP_001185522.1:n.3442-20553G>A
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