Canonical Allele Identifier: CA169124999

Gene: ASB10

Linked Data

• dbSNP Id: rs995183534
• gnomAD v2: 7-150883267-C-G
• gnomAD v3: 7-151186180-C-G
• gnomAD v4: 7-151186180-C-G
• MyVariant Identifiers: chr7:g.150883267C>G (hg19) ; chr7:g.151186180C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151186180C>G , CM000669.2:g.151186180C>G	GRCh38
NC_000007.13:g.150883267C>G , CM000669.1:g.150883267C>G	GRCh37
NC_000007.12:g.150514200C>G	NCBI36
NG_017016.1:g.6653G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000420175.3:c.584+212G>C MANE Select	ENSP00000391137.2:n.584+212G>C
ENST00000275838.5:c.584+212G>C	ENSP00000275838.1:n.584+212G>C
ENST00000377867.7:c.539+212G>C	ENSP00000367098.3:n.539+212G>C
ENST00000420175.2:c.584+212G>C	ENSP00000391137.2:n.584+212G>C
NM_001142459.1:c.584+212G>C	NP_001135931.2:n.584+212G>C
NM_001142460.1:c.584+212G>C	NP_001135932.2:n.584+212G>C
NM_080871.3:c.539+212G>C	NP_543147.2:n.539+212G>C
XM_005249949.3:c.719+212G>C	XP_005250006.1:n.719+212G>C
NM_001142459.2:c.584+212G>C MANE Select	NP_001135931.2:n.584+212G>C
NM_080871.4:c.539+212G>C	NP_543147.2:n.539+212G>C