Canonical Allele Identifier: CA371753712
Gene: GDF6 HGNC NCBI

Linked Data

dbSNP Id: rs543473222
gnomAD v3: 8-96160478-T-A
gnomAD v4: 8-96160478-T-A
MyVariant Identifiers: chr8:g.97172706T>A (hg19) chr8:g.96160478T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.96160478T>A , CM000670.2:g.96160478T>A GRCh38
NC_000008.10:g.97172706T>A , CM000670.1:g.97172706T>A GRCh37
NC_000008.9:g.97241882T>A NCBI36
NG_008981.1:g.5315A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000287020.7:c.215A>T MANE Select ENSP00000287020.4:p.Gln72Leu
ENST00000287020.6:c.215A>T ENSP00000287020.4:p.Gln72Leu
ENST00000620978.1:c.215A>T ENSP00000480170.1:p.Gln72Leu
ENST00000621429.1:c.215A>T ENSP00000483711.1:p.Gln72Leu
NM_001001557.2:c.215A>T NP_001001557.1:p.Gln72Leu
NM_001001557.3:c.215A>T NP_001001557.1:p.Gln72Leu
NM_001001557.4:c.215A>T MANE Select NP_001001557.1:p.Gln72Leu
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