Canonical Allele Identifier: CA462454985
Gene: GDF6 HGNC NCBI

Linked Data

gnomAD v4: 8-96145286-G-A
MyVariant Identifiers: chr8:g.97157514G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.96145286G>A , CM000670.2:g.96145286G>A GRCh38
NC_000008.10:g.97157514G>A , CM000670.1:g.97157514G>A GRCh37
NC_000008.9:g.97226690G>A NCBI36
NG_008981.1:g.20507C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000287020.7:c.645C>T MANE Select ENSP00000287020.4:p.Phe215=
ENST00000287020.6:c.645C>T ENSP00000287020.4:p.Phe215=
ENST00000620978.1:c.645C>T ENSP00000480170.1:p.Phe215=
ENST00000621429.1:c.645C>T ENSP00000483711.1:p.Phe215=
NM_001001557.2:c.645C>T NP_001001557.1:p.Phe215=
XM_011517030.1:c.246C>T XP_011515332.1:p.Phe82=
NM_001001557.3:c.645C>T NP_001001557.1:p.Phe215=
NM_001001557.4:c.645C>T MANE Select NP_001001557.1:p.Phe215=