Canonical Allele Identifier: CA2580936168

Gene: SGMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.50359537T>G , CM000672.2:g.50359537T>G	GRCh38
NC_000010.10:g.52119297T>G , CM000672.1:g.52119297T>G	GRCh37
NC_000010.9:g.51789303T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_147156.4:c.-231-15192A>C MANE Select	NP_671512.1:n.-231-15192A>C
ENST00000361781.7:c.-231-15192A>C MANE Select	ENSP00000354829.2:n.-231-15192A>C
NM_147156.3:c.-231-15192A>C	NP_671512.1:n.-231-15192A>C
ENST00000361781.6:c.-231-15192A>C	ENSP00000354829.2:n.-231-15192A>C
ENST00000429490.5:c.-231-15192A>C	ENSP00000406795.2:n.-231-15192A>C
ENST00000492601.2:n.416-15192A>C
ENST00000609445.5:n.520-15192A>C
ENST00000619438.4:c.-231-15192A>C	ENSP00000479633.1:n.-231-15192A>C
XM_005269675.1:c.-231-15192A>C	XP_005269732.1:n.-231-15192A>C
XM_011539582.1:c.-231-15192A>C	XP_011537884.1:n.-231-15192A>C
XM_011539583.1:c.-232+2435A>C	XP_011537885.1:n.-232+2435A>C
XM_011539583.2:c.-232+2435A>C	XP_011537885.1:n.-232+2435A>C
XM_011539584.1:c.-231-15192A>C	XP_011537886.1:n.-231-15192A>C
XM_011539584.3:c.-231-15192A>C	XP_011537886.1:n.-231-15192A>C
XM_011539585.1:c.-231-15192A>C	XP_011537887.1:n.-231-15192A>C
XR_001747078.2:n.250-15192A>C
XR_945650.1:n.318-15192A>C
XR_945650.3:n.250-15192A>C
XR_945651.1:n.318-15192A>C
XR_945651.3:n.250-15192A>C