Canonical Allele Identifier: CA371751954
Gene: GDF6 HGNC NCBI

Linked Data

gnomAD v4: 8-96145188-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.96145188C>T , CM000670.2:g.96145188C>T GRCh38
NC_000008.10:g.97157416C>T , CM000670.1:g.97157416C>T GRCh37
NC_000008.9:g.97226592C>T NCBI36
NG_008981.1:g.20605G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000287020.7:c.743G>A MANE Select ENSP00000287020.4:p.Arg248His
ENST00000287020.6:c.743G>A ENSP00000287020.4:p.Arg248His
ENST00000620978.1:c.707-26G>A ENSP00000480170.1:n.707-26G>A
ENST00000621429.1:c.743G>A ENSP00000483711.1:p.Arg248His
NM_001001557.2:c.743G>A NP_001001557.1:p.Arg248His
XM_011517030.1:c.344G>A XP_011515332.1:p.Arg115His
NM_001001557.3:c.743G>A NP_001001557.1:p.Arg248His
NM_001001557.4:c.743G>A MANE Select NP_001001557.1:p.Arg248His