Canonical Allele Identifier: CA462454586
Gene: GDF6 HGNC NCBI

Linked Data

gnomAD v4: 8-96145178-T-G
MyVariant Identifiers: chr8:g.97157406T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.96145178T>G , CM000670.2:g.96145178T>G GRCh38
NC_000008.10:g.97157406T>G , CM000670.1:g.97157406T>G GRCh37
NC_000008.9:g.97226582T>G NCBI36
NG_008981.1:g.20615A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000287020.7:c.753A>C MANE Select ENSP00000287020.4:p.Gly251=
ENST00000287020.6:c.753A>C ENSP00000287020.4:p.Gly251=
ENST00000620978.1:c.707-16A>C ENSP00000480170.1:n.707-16A>C
ENST00000621429.1:c.753A>C ENSP00000483711.1:p.Gly251=
NM_001001557.2:c.753A>C NP_001001557.1:p.Gly251=
XM_011517030.1:c.354A>C XP_011515332.1:p.Gly118=
NM_001001557.3:c.753A>C NP_001001557.1:p.Gly251=
NM_001001557.4:c.753A>C MANE Select NP_001001557.1:p.Gly251=