Canonical Allele Identifier: CA181485044
Gene: GDF6 HGNC NCBI

Linked Data

dbSNP Id: rs1036909955
gnomAD v4: 8-96145222-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.96145222A>C , CM000670.2:g.96145222A>C GRCh38
NC_000008.10:g.97157450A>C , CM000670.1:g.97157450A>C GRCh37
NC_000008.9:g.97226626A>C NCBI36
NG_008981.1:g.20571T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000287020.7:c.709T>G MANE Select ENSP00000287020.4:p.Trp237Gly
ENST00000287020.6:c.709T>G ENSP00000287020.4:p.Trp237Gly
ENST00000620978.1:c.706+3T>G ENSP00000480170.1:n.706+3T>G
ENST00000621429.1:c.709T>G ENSP00000483711.1:p.Trp237Gly
NM_001001557.2:c.709T>G NP_001001557.1:p.Trp237Gly
XM_011517030.1:c.310T>G XP_011515332.1:p.Trp104Gly
NM_001001557.3:c.709T>G NP_001001557.1:p.Trp237Gly
NM_001001557.4:c.709T>G MANE Select NP_001001557.1:p.Trp237Gly