Canonical Allele Identifier: CA181488437
Gene: GDF6 HGNC NCBI

Linked Data

ClinVar Variation Id: 1606410
ClinVar RCV Id: RCV002137730
dbSNP Id: rs1021290257
gnomAD v2: 8-97172518-G-A
gnomAD v3: 8-96160290-G-A
gnomAD v4: 8-96160290-G-A
MyVariant Identifiers: chr8:g.97172518G>A (hg19) chr8:g.96160290G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.96160290G>A , CM000670.2:g.96160290G>A GRCh38
NC_000008.10:g.97172518G>A , CM000670.1:g.97172518G>A GRCh37
NC_000008.9:g.97241694G>A NCBI36
NG_008981.1:g.5503C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000287020.7:c.403C>T MANE Select ENSP00000287020.4:p.Leu135=
ENST00000287020.6:c.403C>T ENSP00000287020.4:p.Leu135=
ENST00000620978.1:c.403C>T ENSP00000480170.1:p.Leu135=
ENST00000621429.1:c.403C>T ENSP00000483711.1:p.Leu135=
NM_001001557.2:c.403C>T NP_001001557.1:p.Leu135=
NM_001001557.3:c.403C>T NP_001001557.1:p.Leu135=
NM_001001557.4:c.403C>T MANE Select NP_001001557.1:p.Leu135=
Search 100 bp 5'
Search 100 bp 3'