Canonical Allele Identifier: CA2697407

Gene: MYNN

Linked Data

• dbSNP Id: rs764464447
• ExAC: 3:169502495 T / C
• gnomAD v2: 3-169502495-T-C
• gnomAD v4: 3-169784707-T-C
• MyVariant Identifiers: chr3:g.169502495T>C (hg19) ; chr3:g.169784707T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.169784707T>C , CM000665.2:g.169784707T>C	GRCh38
NC_000003.11:g.169502495T>C , CM000665.1:g.169502495T>C	GRCh37
NC_000003.10:g.170985189T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349841.10:c.1569T>C MANE Select	ENSP00000326240.4:p.Ser523=
ENST00000349841.9:c.1569T>C	ENSP00000326240.4:p.Ser523=
ENST00000356716.8:c.1569T>C	ENSP00000349150.3:p.Ser523=
ENST00000544106.5:c.1483+1147T>C	ENSP00000440637.1:n.1483+1147T>C
ENST00000602751.5:c.*1177T>C	ENSP00000473654.1:n.*1177T>C
NM_001185118.1:c.1569T>C	NP_001172047.1:p.Ser523=
NM_001185119.1:c.1483+1147T>C	NP_001172048.1:n.1483+1147T>C
NM_018657.4:c.1569T>C	NP_061127.1:p.Ser523=
NR_033702.1:n.1868T>C
NR_033703.1:n.1882T>C
XM_005247621.3:c.1485T>C	XP_005247678.1:p.Ser495=
XM_005247622.3:c.1323T>C	XP_005247679.1:p.Ser441=
XM_005247624.3:c.1227T>C	XP_005247681.1:p.Ser409=
XM_011512987.1:c.1569T>C	XP_011511289.1:p.Ser523=
XM_011512988.1:c.1569T>C	XP_011511290.1:p.Ser523=
XM_005247621.5:c.1485T>C	XP_005247678.1:p.Ser495=
XM_005247622.4:c.1323T>C	XP_005247679.1:p.Ser441=
XM_005247624.4:c.1227T>C	XP_005247681.1:p.Ser409=
XM_017006864.2:c.1569T>C	XP_016862353.1:p.Ser523=
XM_017006865.2:c.1143T>C	XP_016862354.1:p.Ser381=
XM_017006866.2:c.1143T>C	XP_016862355.1:p.Ser381=
XM_017006867.2:c.750T>C	XP_016862356.1:p.Ser250=
XM_017006868.2:c.666T>C	XP_016862357.1:p.Ser222=
XR_002959552.1:n.3401T>C
NM_001185118.2:c.1569T>C	NP_001172047.1:p.Ser523=
NM_018657.5:c.1569T>C MANE Select	NP_061127.1:p.Ser523=
NR_033702.2:n.1537T>C
NR_033703.2:n.1551T>C