Canonical Allele Identifier: CA1883315378
Gene: COL5A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134701118T= , CM000671.2:g.134701118T= GRCh38
NC_000009.11:g.137592964T= , CM000671.1:g.137592964T= GRCh37
NC_000009.10:g.136732785T= NCBI36
NG_008030.1:g.64313T=

Transcript Alleles

HGVS Amino-acid change
ENST00000371820.4:c.492-53T= ENSP00000360885.4:n.492-53T=
ENST00000371817.8:c.492-53T= MANE Select ENSP00000360882.3:n.492-53T=
ENST00000371817.7:c.492-53T= ENSP00000360882.3:n.492-53T=
ENST00000464187.1:n.914-53T=
ENST00000618395.4:c.492-53T= ENSP00000481360.1:n.492-53T=
NM_000093.4:c.492-53T= NP_000084.3:n.492-53T=
NM_001278074.1:c.492-53T= NP_001265003.1:n.492-53T=
XR_929712.1:n.894-53T=
XR_929713.1:n.894-53T=
XM_017014266.2:c.492-53T= XP_016869755.1:n.492-53T=
XR_001746183.1:n.890-53T=
NM_000093.5:c.492-53T= MANE Select NP_000084.3:n.492-53T=