Canonical Allele Identifier: CA2680956354

Gene: SERAC1

Linked Data

• gnomAD v4: 6-158114666-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158114666T>G , CM000668.2:g.158114666T>G	GRCh38
NC_000006.11:g.158535698T>G , CM000668.1:g.158535698T>G	GRCh37
NC_000006.10:g.158455686T>G	NCBI36
NG_032889.1:g.58615A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000607071.6:c.*1404+123A>C	ENSP00000475855.1:n.*1404+123A>C
ENST00000642244.1:c.1594+123A>C	ENSP00000493554.1:n.1594+123A>C
ENST00000642903.1:c.*43A>C	ENSP00000493559.1:n.*43A>C
ENST00000644972.1:c.1684+123A>C	ENSP00000496451.1:n.1684+123A>C
ENST00000645077.1:c.*1305+123A>C	ENSP00000496113.1:n.*1305+123A>C
ENST00000645172.1:c.*1386+123A>C	ENSP00000495367.1:n.*1386+123A>C
ENST00000646190.1:n.3015+123A>C
ENST00000646208.1:c.1420+123A>C	ENSP00000493723.1:n.1420+123A>C
ENST00000646410.1:c.1555+123A>C	ENSP00000494205.1:n.1555+123A>C
ENST00000646562.1:c.*1641A>C	ENSP00000496087.1:n.*1641A>C
ENST00000647468.2:c.1684+123A>C MANE Select	ENSP00000496731.1:n.1684+123A>C
ENST00000648111.1:c.*1372+123A>C	ENSP00000497275.1:n.*1372+123A>C
ENST00000367104.7:c.1684+123A>C	ENSP00000356071.3:n.1684+123A>C
ENST00000606965.5:c.*368A>C	ENSP00000475808.1:n.*368A>C
ENST00000607071.5:c.*1618+123A>C	ENSP00000475855.1:n.*1618+123A>C
ENST00000607742.5:c.*2962+123A>C	ENSP00000475523.1:n.*2962+123A>C
NM_032861.3:c.1684+123A>C	NP_116250.3:n.1684+123A>C
NR_073096.1:n.1740A>C
XM_006715586.1:c.1474+123A>C	XP_006715649.1:n.1474+123A>C
XM_011536196.1:c.1663+123A>C	XP_011534498.1:n.1663+123A>C
XM_011536197.1:c.1570+123A>C	XP_011534499.1:n.1570+123A>C
XM_011536198.1:c.1474+123A>C	XP_011534500.1:n.1474+123A>C
XM_006715586.3:c.1474+123A>C	XP_006715649.1:n.1474+123A>C
XM_011536196.3:c.1663+123A>C	XP_011534498.1:n.1663+123A>C
XM_011536198.3:c.1474+123A>C	XP_011534500.1:n.1474+123A>C
XM_024446573.1:c.1684+123A>C	XP_024302341.1:n.1684+123A>C
XR_001743697.2:n.1715+123A>C
XR_942606.2:n.1766+123A>C
NM_032861.4:c.1684+123A>C MANE Select	NP_116250.3:n.1684+123A>C
NR_073096.2:n.1722A>C