Canonical Allele Identifier: CA371751686
Gene: GDF6 HGNC NCBI

Linked Data

gnomAD v4: 8-96145085-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.96145085G>T , CM000670.2:g.96145085G>T GRCh38
NC_000008.10:g.97157313G>T , CM000670.1:g.97157313G>T GRCh37
NC_000008.9:g.97226489G>T NCBI36
NG_008981.1:g.20708C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000287020.7:c.846C>A MANE Select ENSP00000287020.4:p.Thr282=
ENST00000287020.6:c.846C>A ENSP00000287020.4:p.Thr282=
ENST00000620978.1:c.784C>A ENSP00000480170.1:p.Gln262Lys
ENST00000621429.1:c.846C>A ENSP00000483711.1:p.Thr282=
NM_001001557.2:c.846C>A NP_001001557.1:p.Thr282=
XM_011517030.1:c.447C>A XP_011515332.1:p.Thr149=
NM_001001557.3:c.846C>A NP_001001557.1:p.Thr282=
NM_001001557.4:c.846C>A MANE Select NP_001001557.1:p.Thr282=