Canonical Allele Identifier: CA2337463

Gene: HHATL CCDC13

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.42698184G>T , CM000665.2:g.42698184G>T	GRCh38
NC_000003.11:g.42739676G>T , CM000665.1:g.42739676G>T	GRCh37
NC_000003.10:g.42714680G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000441594.6:c.651C>A (HHATL) MANE Select	ENSP00000405423.1:p.Phe217Leu
ENST00000310417.9:c.651C>A (HHATL)	ENSP00000310621.5:p.Phe217Leu
ENST00000416756.5:c.651C>A (HHATL)	ENSP00000395779.1:p.Phe217Leu
ENST00000441594.5:c.651C>A (HHATL)	ENSP00000405423.1:p.Phe217Leu
ENST00000457462.5:c.456C>A (HHATL)	ENSP00000403787.1:p.Phe152Leu
ENST00000479631.5:n.356-5309C>A (CCDC13)
NM_020707.3:c.651C>A (HHATL)	NP_065758.3:p.Phe217Leu
NR_027753.1:n.798C>A (HHATL)
XM_006713274.1:c.651C>A (HHATL)	XP_006713337.1:p.Phe217Leu
XM_006713275.1:c.456C>A (HHATL)	XP_006713338.1:p.Phe152Leu
XM_011533969.1:c.720C>A (HHATL)	XP_011532271.1:p.Phe240Leu
XM_011533970.1:c.525C>A (HHATL)	XP_011532272.1:p.Phe175Leu
XR_940482.1:n.807C>A (HHATL)
XR_940483.1:n.807C>A (HHATL)
XR_940484.1:n.807C>A (HHATL)
XM_006713274.3:c.651C>A (HHATL)	XP_006713337.1:p.Phe217Leu
XM_006713275.2:c.456C>A (HHATL)	XP_006713338.1:p.Phe152Leu
XM_011533969.2:c.720C>A (HHATL)	XP_011532271.1:p.Phe240Leu
XM_011533970.2:c.525C>A (HHATL)	XP_011532272.1:p.Phe175Leu
XM_017006935.1:c.720C>A (HHATL)	XP_016862424.1:p.Phe240Leu
XM_017006936.1:c.651C>A (HHATL)	XP_016862425.1:p.Phe217Leu
XM_017006937.1:c.456C>A (HHATL)	XP_016862426.1:p.Phe152Leu
XM_017006938.1:c.456C>A (HHATL)	XP_016862427.1:p.Phe152Leu
XR_001740219.2:n.773C>A (HHATL)
XR_001740220.1:n.935C>A (HHATL)
XR_001740221.1:n.793C>A (HHATL)
XR_002959565.1:n.935C>A (HHATL)
XR_940482.2:n.950C>A (HHATL)
XR_940483.2:n.951C>A (HHATL)
XR_940484.2:n.952C>A (HHATL)
NM_020707.4:c.651C>A (HHATL) MANE Select	NP_065758.3:p.Phe217Leu
NR_027753.2:n.798C>A (HHATL)