Canonical Allele Identifier: CA181488574
Gene: GDF6 HGNC NCBI

Linked Data

ClinVar Variation Id: 851090
ClinVar RCV Id: RCV001055413
dbSNP Id: rs1040541530
gnomAD v3: 8-96160470-G-A
gnomAD v4: 8-96160470-G-A
MyVariant Identifiers: chr8:g.97172698G>A (hg19) chr8:g.96160470G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.96160470G>A , CM000670.2:g.96160470G>A GRCh38
NC_000008.10:g.97172698G>A , CM000670.1:g.97172698G>A GRCh37
NC_000008.9:g.97241874G>A NCBI36
NG_008981.1:g.5323C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000287020.7:c.223C>T MANE Select ENSP00000287020.4:p.Pro75Ser
ENST00000287020.6:c.223C>T ENSP00000287020.4:p.Pro75Ser
ENST00000620978.1:c.223C>T ENSP00000480170.1:p.Pro75Ser
ENST00000621429.1:c.223C>T ENSP00000483711.1:p.Pro75Ser
NM_001001557.2:c.223C>T NP_001001557.1:p.Pro75Ser
NM_001001557.3:c.223C>T NP_001001557.1:p.Pro75Ser
NM_001001557.4:c.223C>T MANE Select NP_001001557.1:p.Pro75Ser
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