Canonical Allele Identifier: CA13843436
Gene: LHFPL6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.39506244A>G , CM000675.2:g.39506244A>G GRCh38
NC_000013.10:g.40080381A>G , CM000675.1:g.40080381A>G GRCh37
NC_000013.9:g.38978381A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000379589.4:c.385+94588T>C MANE Select ENSP00000368908.3:n.385+94588T>C
ENST00000648377.1:c.385+94588T>C ENSP00000496801.1:n.385+94588T>C
ENST00000379589.3:c.385+94588T>C ENSP00000368908.3:n.385+94588T>C
NM_005780.2:c.385+94588T>C NP_005771.1:n.385+94588T>C
XM_011534861.1:c.385+94588T>C XP_011533163.1:n.385+94588T>C
XR_941893.1:n.1694+521A>G
XR_002957521.1:n.88+521A>G
NM_005780.3:c.385+94588T>C MANE Select NP_005771.1:n.385+94588T>C