Canonical Allele Identifier: CA371752069
Gene: GDF6 HGNC NCBI

Linked Data

gnomAD v4: 8-96145245-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.96145245A>T , CM000670.2:g.96145245A>T GRCh38
NC_000008.10:g.97157473A>T , CM000670.1:g.97157473A>T GRCh37
NC_000008.9:g.97226649A>T NCBI36
NG_008981.1:g.20548T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000287020.7:c.686T>A MANE Select ENSP00000287020.4:p.Leu229Gln
ENST00000287020.6:c.686T>A ENSP00000287020.4:p.Leu229Gln
ENST00000620978.1:c.686T>A ENSP00000480170.1:p.Leu229Gln
ENST00000621429.1:c.686T>A ENSP00000483711.1:p.Leu229Gln
NM_001001557.2:c.686T>A NP_001001557.1:p.Leu229Gln
XM_011517030.1:c.287T>A XP_011515332.1:p.Leu96Gln
NM_001001557.3:c.686T>A NP_001001557.1:p.Leu229Gln
NM_001001557.4:c.686T>A MANE Select NP_001001557.1:p.Leu229Gln