Canonical Allele Identifier: CA181485030
Gene: GDF6 HGNC NCBI

Linked Data

dbSNP Id: rs998429277
gnomAD v4: 8-96145025-A-C
MyVariant Identifiers: chr8:g.97157253A>C (hg19) chr8:g.96145025A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.96145025A>C , CM000670.2:g.96145025A>C GRCh38
NC_000008.10:g.97157253A>C , CM000670.1:g.97157253A>C GRCh37
NC_000008.9:g.97226429A>C NCBI36
NG_008981.1:g.20768T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000287020.7:c.906T>G MANE Select ENSP00000287020.4:p.Ala302=
ENST00000287020.6:c.906T>G ENSP00000287020.4:p.Ala302=
ENST00000620978.1:c.793+51T>G ENSP00000480170.1:n.793+51T>G
ENST00000621429.1:c.874+32T>G ENSP00000483711.1:n.874+32T>G
NM_001001557.2:c.906T>G NP_001001557.1:p.Ala302=
XM_011517030.1:c.507T>G XP_011515332.1:p.Ala169=
NM_001001557.3:c.906T>G NP_001001557.1:p.Ala302=
NM_001001557.4:c.906T>G MANE Select NP_001001557.1:p.Ala302=
Search 100 bp 5'
Search 100 bp 3'