Canonical Allele Identifier: CA4071358

Gene: SERAC1

Linked Data

• dbSNP Id: rs758278653
• ExAC: 6:158567836 C / G
• gnomAD v2: 6-158567836-C-G
• gnomAD v4: 6-158146804-C-G
• MyVariant Identifiers: chr6:g.158567836C>G (hg19) ; chr6:g.158146804C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158146804C>G , CM000668.2:g.158146804C>G	GRCh38
NC_000006.11:g.158567836C>G , CM000668.1:g.158567836C>G	GRCh37
NC_000006.10:g.158487824C>G	NCBI36
NG_032889.1:g.26477G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000607071.6:c.*299G>C	ENSP00000475855.1:n.*299G>C
ENST00000642244.1:c.375G>C	ENSP00000493554.1:p.Met125Ile
ENST00000642903.1:c.465G>C	ENSP00000493559.1:p.Met155Ile
ENST00000644972.1:c.465G>C	ENSP00000496451.1:p.Met155Ile
ENST00000645077.1:c.*299G>C	ENSP00000496113.1:n.*299G>C
ENST00000645172.1:c.*189+2061G>C	ENSP00000495367.1:n.*189+2061G>C
ENST00000646190.1:n.1696G>C
ENST00000646208.1:c.201G>C	ENSP00000493723.1:p.Met67Ile
ENST00000646410.1:c.336G>C	ENSP00000494205.1:p.Met112Ile
ENST00000646562.1:c.*299G>C	ENSP00000496087.1:n.*299G>C
ENST00000647468.2:c.465G>C MANE Select	ENSP00000496731.1:p.Met155Ile
ENST00000648111.1:c.*109G>C	ENSP00000497275.1:n.*109G>C
ENST00000367101.5:c.465G>C	ENSP00000356068.1:p.Met155Ile
ENST00000367104.7:c.465G>C	ENSP00000356071.3:p.Met155Ile
ENST00000606965.5:c.465G>C	ENSP00000475808.1:p.Met155Ile
ENST00000607000.1:c.465G>C	ENSP00000475788.1:p.Met155Ile
ENST00000607071.5:c.*299G>C	ENSP00000475855.1:n.*299G>C
ENST00000607742.5:c.*299G>C	ENSP00000475523.1:n.*299G>C
NM_032861.3:c.465G>C	NP_116250.3:p.Met155Ile
NR_073096.1:n.607G>C
XM_006715586.1:c.255G>C	XP_006715649.1:p.Met85Ile
XM_011536196.1:c.444G>C	XP_011534498.1:p.Met148Ile
XM_011536197.1:c.465G>C	XP_011534499.1:p.Met155Ile
XM_011536198.1:c.255G>C	XP_011534500.1:p.Met85Ile
XR_942606.1:n.466G>C
XM_006715586.3:c.255G>C	XP_006715649.1:p.Met85Ile
XM_011536196.3:c.444G>C	XP_011534498.1:p.Met148Ile
XM_011536198.3:c.255G>C	XP_011534500.1:p.Met85Ile
XM_024446573.1:c.465G>C	XP_024302341.1:p.Met155Ile
XR_001743697.2:n.546G>C
XR_942606.2:n.597G>C
NM_032861.4:c.465G>C MANE Select	NP_116250.3:p.Met155Ile
NR_073096.2:n.589G>C