Canonical Allele Identifier: CA366254778

Gene: SERAC1

Linked Data

• gnomAD v3: 6-158114753-T-G
• gnomAD v4: 6-158114753-T-G
• MyVariant Identifiers: chr6:g.158535785T>G (hg19) ; chr6:g.158114753T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158114753T>G , CM000668.2:g.158114753T>G	GRCh38
NC_000006.11:g.158535785T>G , CM000668.1:g.158535785T>G	GRCh37
NC_000006.10:g.158455773T>G	NCBI36
NG_032889.1:g.58528A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000607071.6:c.*1404+36A>C	ENSP00000475855.1:n.*1404+36A>C
ENST00000642244.1:c.1594+36A>C	ENSP00000493554.1:n.1594+36A>C
ENST00000642903.1:c.1720A>C	ENSP00000493559.1:p.Ile574Leu
ENST00000644972.1:c.1684+36A>C	ENSP00000496451.1:n.1684+36A>C
ENST00000645077.1:c.*1305+36A>C	ENSP00000496113.1:n.*1305+36A>C
ENST00000645172.1:c.*1386+36A>C	ENSP00000495367.1:n.*1386+36A>C
ENST00000646190.1:n.3015+36A>C
ENST00000646208.1:c.1420+36A>C	ENSP00000493723.1:n.1420+36A>C
ENST00000646410.1:c.1555+36A>C	ENSP00000494205.1:n.1555+36A>C
ENST00000646562.1:c.*1554A>C	ENSP00000496087.1:n.*1554A>C
ENST00000647468.2:c.1684+36A>C MANE Select	ENSP00000496731.1:n.1684+36A>C
ENST00000648111.1:c.*1372+36A>C	ENSP00000497275.1:n.*1372+36A>C
ENST00000367101.5:c.*168A>C	ENSP00000356068.1:n.*168A>C
ENST00000367104.7:c.1684+36A>C	ENSP00000356071.3:n.1684+36A>C
ENST00000435180.5:c.445A>C	ENSP00000391168.1:p.Ile149Leu
ENST00000606965.5:c.*281A>C	ENSP00000475808.1:n.*281A>C
ENST00000607071.5:c.*1618+36A>C	ENSP00000475855.1:n.*1618+36A>C
ENST00000607742.5:c.*2962+36A>C	ENSP00000475523.1:n.*2962+36A>C
NM_032861.3:c.1684+36A>C	NP_116250.3:n.1684+36A>C
NR_073096.1:n.1653A>C
XM_006715586.1:c.1474+36A>C	XP_006715649.1:n.1474+36A>C
XM_011536196.1:c.1663+36A>C	XP_011534498.1:n.1663+36A>C
XM_011536197.1:c.1570+36A>C	XP_011534499.1:n.1570+36A>C
XM_011536198.1:c.1474+36A>C	XP_011534500.1:n.1474+36A>C
XM_006715586.3:c.1474+36A>C	XP_006715649.1:n.1474+36A>C
XM_011536196.3:c.1663+36A>C	XP_011534498.1:n.1663+36A>C
XM_011536198.3:c.1474+36A>C	XP_011534500.1:n.1474+36A>C
XM_024446573.1:c.1684+36A>C	XP_024302341.1:n.1684+36A>C
XR_001743697.2:n.1715+36A>C
XR_942606.2:n.1766+36A>C
NM_032861.4:c.1684+36A>C MANE Select	NP_116250.3:n.1684+36A>C
NR_073096.2:n.1635A>C