Canonical Allele Identifier: CA371753690

Gene: GDF6

Linked Data

• dbSNP Id: rs1378920942
• gnomAD v4: 8-96160469-G-A
• MyVariant Identifiers: chr8:g.97172697G>A (hg19) ; chr8:g.96160469G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.96160469G>A , CM000670.2:g.96160469G>A	GRCh38
NC_000008.10:g.97172697G>A , CM000670.1:g.97172697G>A	GRCh37
NC_000008.9:g.97241873G>A	NCBI36
NG_008981.1:g.5324C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287020.7:c.224C>T MANE Select	ENSP00000287020.4:p.Pro75Leu
ENST00000287020.6:c.224C>T	ENSP00000287020.4:p.Pro75Leu
ENST00000620978.1:c.224C>T	ENSP00000480170.1:p.Pro75Leu
ENST00000621429.1:c.224C>T	ENSP00000483711.1:p.Pro75Leu
NM_001001557.2:c.224C>T	NP_001001557.1:p.Pro75Leu
NM_001001557.3:c.224C>T	NP_001001557.1:p.Pro75Leu
NM_001001557.4:c.224C>T MANE Select	NP_001001557.1:p.Pro75Leu