Canonical Allele Identifier: CA462454593
Gene: GDF6 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.97157409C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.96145181C>G , CM000670.2:g.96145181C>G GRCh38
NC_000008.10:g.97157409C>G , CM000670.1:g.97157409C>G GRCh37
NC_000008.9:g.97226585C>G NCBI36
NG_008981.1:g.20612G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000287020.7:c.750G>C MANE Select ENSP00000287020.4:p.Arg250=
ENST00000287020.6:c.750G>C ENSP00000287020.4:p.Arg250=
ENST00000620978.1:c.707-19G>C ENSP00000480170.1:n.707-19G>C
ENST00000621429.1:c.750G>C ENSP00000483711.1:p.Arg250=
NM_001001557.2:c.750G>C NP_001001557.1:p.Arg250=
XM_011517030.1:c.351G>C XP_011515332.1:p.Arg117=
NM_001001557.3:c.750G>C NP_001001557.1:p.Arg250=
NM_001001557.4:c.750G>C MANE Select NP_001001557.1:p.Arg250=
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