Canonical Allele Identifier: CA3335516

Gene: RASA1 CCNH

Linked Data

• ClinVar Variation Id: 561432
• ClinVar RCV Id: RCV000680728
• dbSNP Id: rs13157168
• ExAC: 5:86627138 G / A
• gnomAD v2: 5-86627138-G-A
• gnomAD v3: 5-87331321-G-A
• gnomAD v4: 5-87331321-G-A
• MyVariant Identifiers: chr5:g.86627138G>A (hg19) ; chr5:g.87331321G>A (hg38)
• Allelic Epigenome: Alellic Epigenome (raw data)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.87331321G>A , CM000667.2:g.87331321G>A	GRCh38
NC_000005.9:g.86627138G>A , CM000667.1:g.86627138G>A	GRCh37
NC_000005.8:g.86662894G>A	NCBI36
NG_011650.1:g.67988G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000274376.11:c.540-27G>A (RASA1) MANE Select	ENSP00000274376.6:n.540-27G>A
ENST00000645953.1:c.*91-12424C>T (CCNH)	ENSP00000494460.1:n.*91-12424C>T
ENST00000274376.10:c.540-27G>A (RASA1)	ENSP00000274376.6:n.540-27G>A
ENST00000456692.6:c.9-27G>A (RASA1)	ENSP00000411221.2:n.9-27G>A
ENST00000506290.1:c.42-27G>A (RASA1)	ENSP00000420905.1:n.42-27G>A
ENST00000512763.5:c.39-27G>A (RASA1)	ENSP00000422008.1:n.39-27G>A
ENST00000515800.6:c.540-27G>A (RASA1)	ENSP00000423395.2:n.540-27G>A
NM_002890.2:c.540-27G>A (RASA1)	NP_002881.1:n.540-27G>A
NM_022650.2:c.9-27G>A (RASA1)	NP_072179.1:n.9-27G>A
XM_011543525.1:c.540-27G>A (RASA1)	XP_011541827.1:n.540-27G>A
XM_011543526.1:c.540-27G>A (RASA1)	XP_011541828.1:n.540-27G>A
XM_011543527.1:c.540-27G>A (RASA1)	XP_011541829.1:n.540-27G>A
NM_001364075.1:c.934-18526C>T (CCNH)	NP_001351004.1:n.934-18526C>T
NR_157068.1:n.1448-18526C>T (CCNH)
NR_157069.1:n.1041-18526C>T (CCNH)
NR_157070.1:n.1205-18526C>T (CCNH)
XM_011543525.2:c.540-27G>A (RASA1)	XP_011541827.1:n.540-27G>A
XM_011543527.3:c.540-27G>A (RASA1)	XP_011541829.1:n.540-27G>A
NM_001364075.2:c.934-18526C>T (CCNH)	NP_001351004.1:n.934-18526C>T
NM_002890.3:c.540-27G>A (RASA1) MANE Select	NP_002881.1:n.540-27G>A
NR_157068.2:n.1448-18526C>T (CCNH)
NR_157069.2:n.1041-18526C>T (CCNH)
NR_157070.2:n.1205-18526C>T (CCNH)
NM_022650.3:c.9-27G>A (RASA1)	NP_072179.1:n.9-27G>A