Canonical Allele Identifier: CA462454740
Gene: GDF6 HGNC NCBI

Linked Data

ClinVar Variation Id: 1576271
ClinVar RCV Id: RCV002078276
dbSNP Id: rs2130237359
MyVariant Identifiers: chr8:g.97172534G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.96160306G>A , CM000670.2:g.96160306G>A GRCh38
NC_000008.10:g.97172534G>A , CM000670.1:g.97172534G>A GRCh37
NC_000008.9:g.97241710G>A NCBI36
NG_008981.1:g.5487C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000287020.7:c.387C>T MANE Select ENSP00000287020.4:p.Ser129=
ENST00000287020.6:c.387C>T ENSP00000287020.4:p.Ser129=
ENST00000620978.1:c.387C>T ENSP00000480170.1:p.Ser129=
ENST00000621429.1:c.387C>T ENSP00000483711.1:p.Ser129=
NM_001001557.2:c.387C>T NP_001001557.1:p.Ser129=
NM_001001557.3:c.387C>T NP_001001557.1:p.Ser129=
NM_001001557.4:c.387C>T MANE Select NP_001001557.1:p.Ser129=
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