Canonical Allele Identifier: CA371751682
Gene: GDF6 HGNC NCBI

Linked Data

gnomAD v4: 8-96145084-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.96145084T>C , CM000670.2:g.96145084T>C GRCh38
NC_000008.10:g.97157312T>C , CM000670.1:g.97157312T>C GRCh37
NC_000008.9:g.97226488T>C NCBI36
NG_008981.1:g.20709A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000287020.7:c.847A>G MANE Select ENSP00000287020.4:p.Arg283Gly
ENST00000287020.6:c.847A>G ENSP00000287020.4:p.Arg283Gly
ENST00000620978.1:c.785A>G ENSP00000480170.1:p.Gln262Arg
ENST00000621429.1:c.847A>G ENSP00000483711.1:p.Arg283Gly
NM_001001557.2:c.847A>G NP_001001557.1:p.Arg283Gly
XM_011517030.1:c.448A>G XP_011515332.1:p.Arg150Gly
NM_001001557.3:c.847A>G NP_001001557.1:p.Arg283Gly
NM_001001557.4:c.847A>G MANE Select NP_001001557.1:p.Arg283Gly