Canonical Allele Identifier: CA371751706
Gene: GDF6 HGNC NCBI

Linked Data

gnomAD v4: 8-96145092-A-G
MyVariant Identifiers: chr8:g.97157320A>G (hg19) chr8:g.96145092A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.96145092A>G , CM000670.2:g.96145092A>G GRCh38
NC_000008.10:g.97157320A>G , CM000670.1:g.97157320A>G GRCh37
NC_000008.9:g.97226496A>G NCBI36
NG_008981.1:g.20701T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000287020.7:c.839T>C MANE Select ENSP00000287020.4:p.Val280Ala
ENST00000287020.6:c.839T>C ENSP00000287020.4:p.Val280Ala
ENST00000620978.1:c.777T>C ENSP00000480170.1:p.Gly259=
ENST00000621429.1:c.839T>C ENSP00000483711.1:p.Val280Ala
NM_001001557.2:c.839T>C NP_001001557.1:p.Val280Ala
XM_011517030.1:c.440T>C XP_011515332.1:p.Val147Ala
NM_001001557.3:c.839T>C NP_001001557.1:p.Val280Ala
NM_001001557.4:c.839T>C MANE Select NP_001001557.1:p.Val280Ala
Search 100 bp 5'
Search 100 bp 3'