Canonical Allele Identifier: CA371751739
Gene: GDF6 HGNC NCBI

Linked Data

gnomAD v4: 8-96145104-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.96145104G>A , CM000670.2:g.96145104G>A GRCh38
NC_000008.10:g.97157332G>A , CM000670.1:g.97157332G>A GRCh37
NC_000008.9:g.97226508G>A NCBI36
NG_008981.1:g.20689C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000287020.7:c.827C>T MANE Select ENSP00000287020.4:p.Ala276Val
ENST00000287020.6:c.827C>T ENSP00000287020.4:p.Ala276Val
ENST00000620978.1:c.765C>T ENSP00000480170.1:p.Gly255=
ENST00000621429.1:c.827C>T ENSP00000483711.1:p.Ala276Val
NM_001001557.2:c.827C>T NP_001001557.1:p.Ala276Val
XM_011517030.1:c.428C>T XP_011515332.1:p.Ala143Val
NM_001001557.3:c.827C>T NP_001001557.1:p.Ala276Val
NM_001001557.4:c.827C>T MANE Select NP_001001557.1:p.Ala276Val