Canonical Allele Identifier: CA3336180

Gene: RASA1 CCNH

Linked Data

• dbSNP Id: rs764894260
• ExAC: 5:86685251 G / A
• gnomAD v2: 5-86685251-G-A
• gnomAD v4: 5-87389434-G-A
• MyVariant Identifiers: chr5:g.86685251G>A (hg19) ; chr5:g.87389434G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.87389434G>A , CM000667.2:g.87389434G>A	GRCh38
NC_000005.9:g.86685251G>A , CM000667.1:g.86685251G>A	GRCh37
NC_000005.8:g.86721007G>A	NCBI36
NG_011650.1:g.126101G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000274376.11:c.2967G>A (RASA1) MANE Select	ENSP00000274376.6:p.Thr989=
ENST00000645953.1:c.*90+3336C>T (CCNH)	ENSP00000494460.1:n.*90+3336C>T
ENST00000646883.1:c.254+3336C>T (CCNH)
ENST00000274376.10:c.2967G>A (RASA1)	ENSP00000274376.6:p.Thr989=
ENST00000456692.6:c.2436G>A (RASA1)	ENSP00000411221.2:p.Thr812=
ENST00000506290.1:c.2469G>A (RASA1)	ENSP00000420905.1:p.Thr823=
ENST00000512763.5:c.2466G>A (RASA1)	ENSP00000422008.1:p.Thr822=
ENST00000515800.6:c.*1582G>A (RASA1)	ENSP00000423395.2:n.*1582G>A
NM_002890.2:c.2967G>A (RASA1)	NP_002881.1:p.Thr989=
NM_022650.2:c.2436G>A (RASA1)	NP_072179.1:p.Thr812=
XM_011543525.1:c.2880G>A (RASA1)	XP_011541827.1:p.Thr960=
NM_001364075.1:c.933+5610C>T (CCNH)	NP_001351004.1:n.933+5610C>T
NR_157068.1:n.1447+3336C>T (CCNH)
NR_157069.1:n.1040+3336C>T (CCNH)
NR_157070.1:n.1204+3336C>T (CCNH)
XM_011543525.2:c.2880G>A (RASA1)	XP_011541827.1:p.Thr960=
NM_001364075.2:c.933+5610C>T (CCNH)	NP_001351004.1:n.933+5610C>T
NM_002890.3:c.2967G>A (RASA1) MANE Select	NP_002881.1:p.Thr989=
NR_157068.2:n.1447+3336C>T (CCNH)
NR_157069.2:n.1040+3336C>T (CCNH)
NR_157070.2:n.1204+3336C>T (CCNH)
NM_022650.3:c.2436G>A (RASA1)	NP_072179.1:p.Thr812=