Canonical Allele Identifier: CA371751979
Gene: GDF6 HGNC NCBI

Linked Data

dbSNP Id: rs1812454919
MyVariant Identifiers: chr8:g.97157428T>G (hg19) chr8:g.96145200T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.96145200T>G , CM000670.2:g.96145200T>G GRCh38
NC_000008.10:g.97157428T>G , CM000670.1:g.97157428T>G GRCh37
NC_000008.9:g.97226604T>G NCBI36
NG_008981.1:g.20593A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000287020.7:c.731A>C MANE Select ENSP00000287020.4:p.Glu244Ala
ENST00000287020.6:c.731A>C ENSP00000287020.4:p.Glu244Ala
ENST00000620978.1:c.706+25A>C ENSP00000480170.1:n.706+25A>C
ENST00000621429.1:c.731A>C ENSP00000483711.1:p.Glu244Ala
NM_001001557.2:c.731A>C NP_001001557.1:p.Glu244Ala
XM_011517030.1:c.332A>C XP_011515332.1:p.Glu111Ala
NM_001001557.3:c.731A>C NP_001001557.1:p.Glu244Ala
NM_001001557.4:c.731A>C MANE Select NP_001001557.1:p.Glu244Ala
Search 100 bp 5'
Search 100 bp 3'