Canonical Allele Identifier: CA10625959

Gene: GDF6

Linked Data

• ClinVar Variation Id: 364022
• ClinVar RCV Id: RCV000393130
• dbSNP Id: rs75587676
• gnomAD v2: 8-97156214-T-A
• gnomAD v3: 8-96143986-T-A
• gnomAD v4: 8-96143986-T-A
• MyVariant Identifiers: chr8:g.97156214T>A (hg19) ; chr8:g.96143986T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.96143986T>A , CM000670.2:g.96143986T>A	GRCh38
NC_000008.10:g.97156214T>A , CM000670.1:g.97156214T>A	GRCh37
NC_000008.9:g.97225390T>A	NCBI36
NG_008981.1:g.21807A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287020.7:c.*577A>T MANE Select	ENSP00000287020.4:n.*577A>T
ENST00000287020.6:c.*577A>T	ENSP00000287020.4:n.*577A>T
NM_001001557.2:c.*577A>T	NP_001001557.1:n.*577A>T
XM_011517030.1:c.*577A>T	XP_011515332.1:n.*577A>T
NM_001001557.3:c.*577A>T	NP_001001557.1:n.*577A>T
NM_001001557.4:c.*577A>T MANE Select	NP_001001557.1:n.*577A>T