Canonical Allele Identifier: CA371752035

Gene: GDF6

Linked Data

• gnomAD v4: 8-96145228-C-A
• COSMIC: COSM6361807
• MyVariant Identifiers: chr8:g.97157456C>A (hg19) ; chr8:g.96145228C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.96145228C>A , CM000670.2:g.96145228C>A	GRCh38
NC_000008.10:g.97157456C>A , CM000670.1:g.97157456C>A	GRCh37
NC_000008.9:g.97226632C>A	NCBI36
NG_008981.1:g.20565G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287020.7:c.703G>T MANE Select	ENSP00000287020.4:p.Ala235Ser
ENST00000287020.6:c.703G>T	ENSP00000287020.4:p.Ala235Ser
ENST00000620978.1:c.703G>T	ENSP00000480170.1:p.Ala235Ser
ENST00000621429.1:c.703G>T	ENSP00000483711.1:p.Ala235Ser
NM_001001557.2:c.703G>T	NP_001001557.1:p.Ala235Ser
XM_011517030.1:c.304G>T	XP_011515332.1:p.Ala102Ser
NM_001001557.3:c.703G>T	NP_001001557.1:p.Ala235Ser
NM_001001557.4:c.703G>T MANE Select	NP_001001557.1:p.Ala235Ser