Canonical Allele Identifier: CA371751959
Gene: GDF6 HGNC NCBI

Linked Data

gnomAD v4: 8-96145192-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.96145192C>A , CM000670.2:g.96145192C>A GRCh38
NC_000008.10:g.97157420C>A , CM000670.1:g.97157420C>A GRCh37
NC_000008.9:g.97226596C>A NCBI36
NG_008981.1:g.20601G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000287020.7:c.739G>T MANE Select ENSP00000287020.4:p.Ala247Ser
ENST00000287020.6:c.739G>T ENSP00000287020.4:p.Ala247Ser
ENST00000620978.1:c.707-30G>T ENSP00000480170.1:n.707-30G>T
ENST00000621429.1:c.739G>T ENSP00000483711.1:p.Ala247Ser
NM_001001557.2:c.739G>T NP_001001557.1:p.Ala247Ser
XM_011517030.1:c.340G>T XP_011515332.1:p.Ala114Ser
NM_001001557.3:c.739G>T NP_001001557.1:p.Ala247Ser
NM_001001557.4:c.739G>T MANE Select NP_001001557.1:p.Ala247Ser