Canonical Allele Identifier: CA371752175
Gene: GDF6 HGNC NCBI

Linked Data

gnomAD v4: 8-96145290-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.96145290A>G , CM000670.2:g.96145290A>G GRCh38
NC_000008.10:g.97157518A>G , CM000670.1:g.97157518A>G GRCh37
NC_000008.9:g.97226694A>G NCBI36
NG_008981.1:g.20503T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000287020.7:c.641T>C MANE Select ENSP00000287020.4:p.Val214Ala
ENST00000287020.6:c.641T>C ENSP00000287020.4:p.Val214Ala
ENST00000620978.1:c.641T>C ENSP00000480170.1:p.Val214Ala
ENST00000621429.1:c.641T>C ENSP00000483711.1:p.Val214Ala
NM_001001557.2:c.641T>C NP_001001557.1:p.Val214Ala
XM_011517030.1:c.242T>C XP_011515332.1:p.Val81Ala
NM_001001557.3:c.641T>C NP_001001557.1:p.Val214Ala
NM_001001557.4:c.641T>C MANE Select NP_001001557.1:p.Val214Ala