Canonical Allele Identifier: CA371751958
Gene: GDF6 HGNC NCBI

Linked Data

ClinVar Variation Id: 1502062
ClinVar RCV Id: RCV002010881
dbSNP Id: rs1228278989
gnomAD v2: 8-97157419-G-T
gnomAD v4: 8-96145191-G-T
MyVariant Identifiers: chr8:g.97157419G>T (hg19) chr8:g.96145191G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.96145191G>T , CM000670.2:g.96145191G>T GRCh38
NC_000008.10:g.97157419G>T , CM000670.1:g.97157419G>T GRCh37
NC_000008.9:g.97226595G>T NCBI36
NG_008981.1:g.20602C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000287020.7:c.740C>A MANE Select ENSP00000287020.4:p.Ala247Glu
ENST00000287020.6:c.740C>A ENSP00000287020.4:p.Ala247Glu
ENST00000620978.1:c.707-29C>A ENSP00000480170.1:n.707-29C>A
ENST00000621429.1:c.740C>A ENSP00000483711.1:p.Ala247Glu
NM_001001557.2:c.740C>A NP_001001557.1:p.Ala247Glu
XM_011517030.1:c.341C>A XP_011515332.1:p.Ala114Glu
NM_001001557.3:c.740C>A NP_001001557.1:p.Ala247Glu
NM_001001557.4:c.740C>A MANE Select NP_001001557.1:p.Ala247Glu
Search 100 bp 5'
Search 100 bp 3'