Canonical Allele Identifier: CA371751610

Gene: GDF6

Linked Data

• gnomAD v4: 8-96145054-T-A
• MyVariant Identifiers: chr8:g.97157282T>A (hg19) ; chr8:g.96145054T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.96145054T>A , CM000670.2:g.96145054T>A	GRCh38
NC_000008.10:g.97157282T>A , CM000670.1:g.97157282T>A	GRCh37
NC_000008.9:g.97226458T>A	NCBI36
NG_008981.1:g.20739A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287020.7:c.877A>T MANE Select	ENSP00000287020.4:p.Met293Leu
ENST00000287020.6:c.877A>T	ENSP00000287020.4:p.Met293Leu
ENST00000620978.1:c.793+22A>T	ENSP00000480170.1:n.793+22A>T
ENST00000621429.1:c.874+3A>T	ENSP00000483711.1:n.874+3A>T
NM_001001557.2:c.877A>T	NP_001001557.1:p.Met293Leu
XM_011517030.1:c.478A>T	XP_011515332.1:p.Met160Leu
NM_001001557.3:c.877A>T	NP_001001557.1:p.Met293Leu
NM_001001557.4:c.877A>T MANE Select	NP_001001557.1:p.Met293Leu