Canonical Allele Identifier: CA371751817
Gene: GDF6 HGNC NCBI

Linked Data

dbSNP Id: rs1364858902
gnomAD v2: 8-97157361-G-A
gnomAD v3: 8-96145133-G-A
gnomAD v4: 8-96145133-G-A
MyVariant Identifiers: chr8:g.97157361G>A (hg19) chr8:g.96145133G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.96145133G>A , CM000670.2:g.96145133G>A GRCh38
NC_000008.10:g.97157361G>A , CM000670.1:g.97157361G>A GRCh37
NC_000008.9:g.97226537G>A NCBI36
NG_008981.1:g.20660C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000287020.7:c.798C>T MANE Select ENSP00000287020.4:p.Gly266=
ENST00000287020.6:c.798C>T ENSP00000287020.4:p.Gly266=
ENST00000620978.1:c.736C>T ENSP00000480170.1:p.Pro246Ser
ENST00000621429.1:c.798C>T ENSP00000483711.1:p.Gly266=
NM_001001557.2:c.798C>T NP_001001557.1:p.Gly266=
XM_011517030.1:c.399C>T XP_011515332.1:p.Gly133=
NM_001001557.3:c.798C>T NP_001001557.1:p.Gly266=
NM_001001557.4:c.798C>T MANE Select NP_001001557.1:p.Gly266=
Search 100 bp 5'
Search 100 bp 3'