Canonical Allele Identifier: CA2687993120
Gene: GDF6 HGNC NCBI

Linked Data

gnomAD v4: 8-96143941-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.96143941T>G , CM000670.2:g.96143941T>G GRCh38
NC_000008.10:g.97156169T>G , CM000670.1:g.97156169T>G GRCh37
NC_000008.9:g.97225345T>G NCBI36
NG_008981.1:g.21852A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000287020.7:c.*622A>C MANE Select ENSP00000287020.4:n.*622A>C
ENST00000287020.6:c.*622A>C ENSP00000287020.4:n.*622A>C
NM_001001557.2:c.*622A>C NP_001001557.1:n.*622A>C
XM_011517030.1:c.*622A>C XP_011515332.1:n.*622A>C
NM_001001557.3:c.*622A>C NP_001001557.1:n.*622A>C
NM_001001557.4:c.*622A>C MANE Select NP_001001557.1:n.*622A>C