Canonical Allele Identifier: CA4815490
Gene: GDF6 HGNC NCBI

Linked Data

dbSNP Id: rs374385671
ExAC: 8:97172553 G / A
gnomAD v2: 8-97172553-G-A
gnomAD v4: 8-96160325-G-A
MyVariant Identifiers: chr8:g.97172553G>A (hg19) chr8:g.96160325G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.96160325G>A , CM000670.2:g.96160325G>A GRCh38
NC_000008.10:g.97172553G>A , CM000670.1:g.97172553G>A GRCh37
NC_000008.9:g.97241729G>A NCBI36
NG_008981.1:g.5468C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000287020.7:c.368C>T MANE Select ENSP00000287020.4:p.Ser123Leu
ENST00000287020.6:c.368C>T ENSP00000287020.4:p.Ser123Leu
ENST00000620978.1:c.368C>T ENSP00000480170.1:p.Ser123Leu
ENST00000621429.1:c.368C>T ENSP00000483711.1:p.Ser123Leu
NM_001001557.2:c.368C>T NP_001001557.1:p.Ser123Leu
NM_001001557.3:c.368C>T NP_001001557.1:p.Ser123Leu
NM_001001557.4:c.368C>T MANE Select NP_001001557.1:p.Ser123Leu
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