Canonical Allele Identifier: CA2838247075

Gene: MAN1C1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.25774826A>C , CM000663.2:g.25774826A>C	GRCh38
NC_000001.10:g.26101317A>C , CM000663.1:g.26101317A>C	GRCh37
NC_000001.9:g.25973904A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374332.9:c.1257+3054A>C MANE Select	ENSP00000363452.4:n.1257+3054A>C
ENST00000263979.7:c.717+3054A>C	ENSP00000263979.3:n.717+3054A>C
ENST00000374329.1:c.570+3054A>C	ENSP00000363449.1:n.570+3054A>C
ENST00000374332.8:c.1257+3054A>C	ENSP00000363452.4:n.1257+3054A>C
ENST00000496532.5:n.336-1106A>C
ENST00000611903.4:c.633+3054A>C	ENSP00000482317.1:n.633+3054A>C
NM_001289010.1:c.1257+3054A>C	NP_001275939.1:n.1257+3054A>C
NM_020379.3:c.1257+3054A>C	NP_065112.1:n.1257+3054A>C
XM_005245945.2:c.528+3054A>C	XP_005246002.1:n.528+3054A>C
XM_011541805.1:c.1257+3054A>C	XP_011540107.1:n.1257+3054A>C
XM_017001860.1:c.528+3054A>C	XP_016857349.1:n.528+3054A>C
XR_001737333.1:n.1525+3054A>C
XR_001737334.1:n.1529+3054A>C
NM_001289010.2:c.1257+3054A>C	NP_001275939.1:n.1257+3054A>C
NM_001385182.1:c.1359+3054A>C	NP_001372111.1:n.1359+3054A>C
NM_001385183.1:c.1329+3054A>C	NP_001372112.1:n.1329+3054A>C
NM_001385184.1:c.753+3054A>C	NP_001372113.1:n.753+3054A>C
NM_001385185.1:c.570+3054A>C	NP_001372114.1:n.570+3054A>C
NM_020379.4:c.1257+3054A>C MANE Select	NP_065112.1:n.1257+3054A>C