Canonical Allele Identifier: CA287858139

Gene: GAS7

Linked Data

• dbSNP Id: rs373939558
• gnomAD v2: 17-10030998-G-A
• gnomAD v3: 17-10127681-G-A
• gnomAD v4: 17-10127681-G-A
• MyVariant Identifiers: chr17:g.10030998G>A (hg19) ; chr17:g.10127681G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.10127681G>A , CM000679.2:g.10127681G>A	GRCh38
NC_000017.10:g.10030998G>A , CM000679.1:g.10030998G>A	GRCh37
NC_000017.9:g.9971723G>A	NCBI36
NG_029502.1:g.75871C>T
NG_029502.2:g.75871C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432992.7:c.183+70527C>T MANE Select	ENSP00000407552.2:n.183+70527C>T
ENST00000432992.6:c.183+70527C>T	ENSP00000407552.2:n.183+70527C>T
NM_201433.1:c.183+70527C>T	NP_958839.1:n.183+70527C>T
NM_201433.2:c.183+70527C>T MANE Select	NP_958839.1:n.183+70527C>T