Canonical Allele Identifier: CA371751624
Gene: GDF6 HGNC NCBI

Linked Data

dbSNP Id: rs1812449514
gnomAD v4: 8-96145059-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.96145059G>T , CM000670.2:g.96145059G>T GRCh38
NC_000008.10:g.97157287G>T , CM000670.1:g.97157287G>T GRCh37
NC_000008.9:g.97226463G>T NCBI36
NG_008981.1:g.20734C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000287020.7:c.872C>A MANE Select ENSP00000287020.4:p.Ala291Glu
ENST00000287020.6:c.872C>A ENSP00000287020.4:p.Ala291Glu
ENST00000620978.1:c.793+17C>A ENSP00000480170.1:n.793+17C>A
ENST00000621429.1:c.872C>A ENSP00000483711.1:p.Ala291Glu
NM_001001557.2:c.872C>A NP_001001557.1:p.Ala291Glu
XM_011517030.1:c.473C>A XP_011515332.1:p.Ala158Glu
NM_001001557.3:c.872C>A NP_001001557.1:p.Ala291Glu
NM_001001557.4:c.872C>A MANE Select NP_001001557.1:p.Ala291Glu