Canonical Allele Identifier: CA462454596
Gene: GDF6 HGNC NCBI

Linked Data

gnomAD v4: 8-96145183-G-T
MyVariant Identifiers: chr8:g.97157411G>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.96145183G>T , CM000670.2:g.96145183G>T GRCh38
NC_000008.10:g.97157411G>T , CM000670.1:g.97157411G>T GRCh37
NC_000008.9:g.97226587G>T NCBI36
NG_008981.1:g.20610C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000287020.7:c.748C>A MANE Select ENSP00000287020.4:p.Arg250=
ENST00000287020.6:c.748C>A ENSP00000287020.4:p.Arg250=
ENST00000620978.1:c.707-21C>A ENSP00000480170.1:n.707-21C>A
ENST00000621429.1:c.748C>A ENSP00000483711.1:p.Arg250=
NM_001001557.2:c.748C>A NP_001001557.1:p.Arg250=
XM_011517030.1:c.349C>A XP_011515332.1:p.Arg117=
NM_001001557.3:c.748C>A NP_001001557.1:p.Arg250=
NM_001001557.4:c.748C>A MANE Select NP_001001557.1:p.Arg250=
Search 100 bp 5'
Search 100 bp 3'