Canonical Allele Identifier: CA462454829
Gene: GDF6 HGNC NCBI

Linked Data

gnomAD v4: 8-96145040-C-T
MyVariant Identifiers: chr8:g.97157268C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.96145040C>T , CM000670.2:g.96145040C>T GRCh38
NC_000008.10:g.97157268C>T , CM000670.1:g.97157268C>T GRCh37
NC_000008.9:g.97226444C>T NCBI36
NG_008981.1:g.20753G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000287020.7:c.891G>A MANE Select ENSP00000287020.4:p.Leu297=
ENST00000287020.6:c.891G>A ENSP00000287020.4:p.Leu297=
ENST00000620978.1:c.793+36G>A ENSP00000480170.1:n.793+36G>A
ENST00000621429.1:c.874+17G>A ENSP00000483711.1:n.874+17G>A
NM_001001557.2:c.891G>A NP_001001557.1:p.Leu297=
XM_011517030.1:c.492G>A XP_011515332.1:p.Leu164=
NM_001001557.3:c.891G>A NP_001001557.1:p.Leu297=
NM_001001557.4:c.891G>A MANE Select NP_001001557.1:p.Leu297=
Search 100 bp 5'
Search 100 bp 3'