Canonical Allele Identifier: CA462454822
Gene: GDF6 HGNC NCBI

Linked Data

gnomAD v4: 8-96145232-C-G
MyVariant Identifiers: chr8:g.97157460C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.96145232C>G , CM000670.2:g.96145232C>G GRCh38
NC_000008.10:g.97157460C>G , CM000670.1:g.97157460C>G GRCh37
NC_000008.9:g.97226636C>G NCBI36
NG_008981.1:g.20561G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000287020.7:c.699G>C MANE Select ENSP00000287020.4:p.Leu233=
ENST00000287020.6:c.699G>C ENSP00000287020.4:p.Leu233=
ENST00000620978.1:c.699G>C ENSP00000480170.1:p.Leu233=
ENST00000621429.1:c.699G>C ENSP00000483711.1:p.Leu233=
NM_001001557.2:c.699G>C NP_001001557.1:p.Leu233=
XM_011517030.1:c.300G>C XP_011515332.1:p.Leu100=
NM_001001557.3:c.699G>C NP_001001557.1:p.Leu233=
NM_001001557.4:c.699G>C MANE Select NP_001001557.1:p.Leu233=
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