Canonical Allele Identifier: CA2337252

Gene: HHATL CCDC13

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.42693715C>A , CM000665.2:g.42693715C>A	GRCh38
NC_000003.11:g.42735207C>A , CM000665.1:g.42735207C>A	GRCh37
NC_000003.10:g.42710211C>A	NCBI36
NG_033035.1:g.13197C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000441594.6:c.1150G>T (HHATL) MANE Select	ENSP00000405423.1:p.Asp384Tyr
ENST00000310417.9:c.1150G>T (HHATL)	ENSP00000310621.5:p.Asp384Tyr
ENST00000426666.5:c.136-526G>T (HHATL)
ENST00000441594.5:c.1150G>T (HHATL)	ENSP00000405423.1:p.Asp384Tyr
ENST00000466007.1:n.249G>T (HHATL)
ENST00000479631.5:n.356-840G>T (CCDC13)
ENST00000480939.1:n.487G>T (HHATL)
NM_020707.3:c.1150G>T (HHATL)	NP_065758.3:p.Asp384Tyr
NR_027753.1:n.1297G>T (HHATL)
XM_006713274.1:c.1150G>T (HHATL)	XP_006713337.1:p.Asp384Tyr
XM_006713275.1:c.955G>T (HHATL)	XP_006713338.1:p.Asp319Tyr
XM_011533969.1:c.1219G>T (HHATL)	XP_011532271.1:p.Asp407Tyr
XM_011533970.1:c.1024G>T (HHATL)	XP_011532272.1:p.Asp342Tyr
XR_940482.1:n.1332G>T (HHATL)
XR_940483.1:n.1161G>T (HHATL)
XR_940484.1:n.1187G>T (HHATL)
XM_006713274.3:c.1150G>T (HHATL)	XP_006713337.1:p.Asp384Tyr
XM_006713275.2:c.955G>T (HHATL)	XP_006713338.1:p.Asp319Tyr
XM_011533969.2:c.1219G>T (HHATL)	XP_011532271.1:p.Asp407Tyr
XM_011533970.2:c.1024G>T (HHATL)	XP_011532272.1:p.Asp342Tyr
XM_017006935.1:c.1219G>T (HHATL)	XP_016862424.1:p.Asp407Tyr
XM_017006936.1:c.1150G>T (HHATL)	XP_016862425.1:p.Asp384Tyr
XM_017006937.1:c.955G>T (HHATL)	XP_016862426.1:p.Asp319Tyr
XM_017006938.1:c.955G>T (HHATL)	XP_016862427.1:p.Asp319Tyr
XR_001740219.2:n.1298G>T (HHATL)
XR_001740220.1:n.1289G>T (HHATL)
XR_001740221.1:n.1147G>T (HHATL)
XR_002959565.1:n.1822G>T (HHATL)
XR_940482.2:n.1475G>T (HHATL)
XR_940483.2:n.1305G>T (HHATL)
XR_940484.2:n.1332G>T (HHATL)
NM_020707.4:c.1150G>T (HHATL) MANE Select	NP_065758.3:p.Asp384Tyr
NR_027753.2:n.1297G>T (HHATL)