Canonical Allele Identifier: CA15510178

Gene: ASB10

Linked Data

• ClinVar Variation Id: 1249881
• ClinVar RCV Id: RCV001650017
• dbSNP Id: rs10275219
• gnomAD v2: 7-150883821-G-A
• gnomAD v3: 7-151186734-G-A
• gnomAD v4: 7-151186734-G-A
• MyVariant Identifiers: chr7:g.150883821G>A (hg19) ; chr7:g.151186734G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151186734G>A , CM000669.2:g.151186734G>A	GRCh38
NC_000007.13:g.150883821G>A , CM000669.1:g.150883821G>A	GRCh37
NC_000007.12:g.150514754G>A	NCBI36
NG_017016.1:g.6099C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000420175.3:c.317-75C>T MANE Select	ENSP00000391137.2:n.317-75C>T
ENST00000275838.5:c.317-75C>T	ENSP00000275838.1:n.317-75C>T
ENST00000377867.7:c.272-75C>T	ENSP00000367098.3:n.272-75C>T
ENST00000415615.1:c.*361-75C>T	ENSP00000410871.1:n.*361-75C>T
ENST00000420175.2:c.317-75C>T	ENSP00000391137.2:n.317-75C>T
NM_001142459.1:c.317-75C>T	NP_001135931.2:n.317-75C>T
NM_001142460.1:c.317-75C>T	NP_001135932.2:n.317-75C>T
NM_080871.3:c.272-75C>T	NP_543147.2:n.272-75C>T
XM_005249949.3:c.452-75C>T	XP_005250006.1:n.452-75C>T
NM_001142459.2:c.317-75C>T MANE Select	NP_001135931.2:n.317-75C>T
NM_080871.4:c.272-75C>T	NP_543147.2:n.272-75C>T