Canonical Allele Identifier: CA184389240

Gene: COL14A1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.120228573G>A , CM000670.2:g.120228573G>A	GRCh38
NC_000008.10:g.121240812G>A , CM000670.1:g.121240812G>A	GRCh37
NC_000008.9:g.121309993G>A	NCBI36
NG_033107.1:g.108466G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_021110.4:c.2138-137G>A MANE Select	NP_066933.1:n.2138-137G>A
ENST00000297848.8:c.2138-137G>A MANE Select	ENSP00000297848.3:n.2138-137G>A
NM_001384947.1:c.2138-137G>A	NP_001371876.1:n.2138-137G>A
NM_021110.2:c.2138-137G>A	NP_066933.1:n.2138-137G>A
NM_021110.3:c.2138-137G>A	NP_066933.1:n.2138-137G>A
ENST00000297848.7:c.2138-137G>A	ENSP00000297848.3:n.2138-137G>A
ENST00000309791.8:c.2138-137G>A	ENSP00000311809.4:n.2138-137G>A
ENST00000432943.6:n.2372-137G>A
ENST00000434620.5:c.1577-137G>A	ENSP00000409461.1:n.1577-137G>A
ENST00000498051.6:c.*660-137G>A	ENSP00000428851.1:n.*660-137G>A
ENST00000537875.2:c.*660-137G>A	ENSP00000443974.1:n.*660-137G>A
XM_005251059.2:c.2138-137G>A	XP_005251116.1:n.2138-137G>A
XM_005251059.4:c.2138-137G>A	XP_005251116.1:n.2138-137G>A
XM_006716651.2:c.2138-137G>A	XP_006716714.1:n.2138-137G>A
XM_006716651.3:c.2138-137G>A	XP_006716714.1:n.2138-137G>A
XM_017013809.2:c.2138-137G>A	XP_016869298.1:n.2138-137G>A