Canonical Allele Identifier: CA10565778

Gene: FAM3A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154507483G>A , CM000685.2:g.154507483G>A	GRCh38
NC_000023.10:g.153735814G>A , CM000685.1:g.153735814G>A	GRCh37
NC_000023.9:g.153389008G>A	NCBI36
NG_016401.2:g.13870C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_021806.4:c.393C>T MANE Select	NP_068578.2:p.Asn131=
ENST00000447601.7:c.393C>T MANE Select	ENSP00000416146.2:p.Asn131=
NM_001171132.2:c.393C>T	NP_001164603.1:p.Asn131=
NM_001171132.3:c.393C>T	NP_001164603.1:p.Asn131=
NM_001171133.2:c.279C>T	NP_001164604.1:p.Asn93=
NM_001171133.3:c.279C>T	NP_001164604.1:p.Asn93=
NM_001171134.2:c.342C>T	NP_001164605.1:p.Asn114=
NM_001171134.3:c.342C>T	NP_001164605.1:p.Asn114=
NM_001282311.1:c.435C>T	NP_001269240.1:p.Asn145=
NM_001282311.2:c.435C>T	NP_001269240.1:p.Asn145=
NM_001282312.1:c.393C>T	NP_001269241.1:p.Asn131=
NM_001282312.2:c.393C>T	NP_001269241.1:p.Asn131=
NM_001363822.1:c.414C>T	NP_001350751.1:p.Asn138=
NM_001363822.2:c.414C>T	NP_001350751.1:p.Asn138=
NM_021806.3:c.393C>T	NP_068578.2:p.Asn131=
ENST00000322269.10:c.435C>T	ENSP00000320521.7:p.Asn145=
ENST00000359889.9:c.393C>T	ENSP00000352955.5:p.Asn131=
ENST00000369641.7:c.414C>T	ENSP00000358655.3:p.Asn138=
ENST00000369643.5:c.393C>T	ENSP00000358657.1:p.Asn131=
ENST00000393572.5:c.279C>T	ENSP00000377202.1:p.Asn93=
ENST00000416319.5:c.*373C>T	ENSP00000415843.1:n.*373C>T
ENST00000419205.5:c.342C>T	ENSP00000393086.2:p.Asn114=
ENST00000426266.5:c.414C>T	ENSP00000396845.1:p.Asn138=
ENST00000434658.6:c.*227C>T	ENSP00000396243.3:n.*227C>T
ENST00000447601.6:c.393C>T	ENSP00000416146.2:p.Asn131=
ENST00000449971.5:c.*278C>T	ENSP00000404171.1:n.*278C>T
ENST00000475657.1:n.109C>T
ENST00000612856.4:n.3057C>T
ENST00000621967.4:c.*278C>T	ENSP00000478650.1:n.*278C>T
XM_005274714.3:c.456C>T	XP_005274771.1:p.Asn152=
XM_005274716.3:c.435C>T	XP_005274773.1:p.Asn145=
XM_005277879.3:c.342C>T	XP_005277936.1:p.Asn114=
XM_005277879.4:c.342C>T	XP_005277936.1:p.Asn114=
XM_006724831.2:c.459C>T	XP_006724894.1:p.Asn153=
XM_006724832.2:c.417C>T	XP_006724895.1:p.Asn139=
XM_006724832.3:c.417C>T	XP_006724895.1:p.Asn139=
XM_006724833.2:c.384C>T	XP_006724896.1:p.Asn128=
XM_006724834.2:c.294C>T	XP_006724897.1:p.Asn98=
XM_011531185.1:c.294C>T	XP_011529487.1:p.Asn98=
XM_017029700.2:c.270C>T	XP_016885189.1:p.Asn90=
XM_017029701.1:c.270C>T	XP_016885190.1:p.Asn90=
XM_017029702.1:c.270C>T	XP_016885191.1:p.Asn90=
XM_024452415.1:c.459C>T	XP_024308183.1:p.Asn153=
XM_024452416.1:c.456C>T	XP_024308184.1:p.Asn152=
XM_024452418.1:c.384C>T	XP_024308186.1:p.Asn128=
XM_024452419.1:c.270C>T	XP_024308187.1:p.Asn90=
XM_024452420.1:c.270C>T	XP_024308188.1:p.Asn90=
XR_002958798.1:n.1189C>T
XR_002958799.1:n.1131C>T
XR_002958800.1:n.1057C>T
XR_002958801.1:n.1101C>T
XR_002958802.1:n.1271C>T
XR_002958803.1:n.707C>T