Canonical Allele Identifier: CA375442704
Gene: COL5A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134699976C>A , CM000671.2:g.134699976C>A GRCh38
NC_000009.11:g.137591822C>A , CM000671.1:g.137591822C>A GRCh37
NC_000009.10:g.136731643C>A NCBI36
NG_008030.1:g.63171C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.345C>A ENSP00000360885.4:p.Phe115Leu
ENST00000371817.8:c.345C>A MANE Select ENSP00000360882.3:p.Phe115Leu
ENST00000371817.7:c.345C>A ENSP00000360882.3:p.Phe115Leu
ENST00000464187.1:n.767C>A
ENST00000618395.4:c.345C>A ENSP00000481360.1:p.Phe115Leu
NM_000093.4:c.345C>A NP_000084.3:p.Phe115Leu
NM_001278074.1:c.345C>A NP_001265003.1:p.Phe115Leu
XR_929712.1:n.747C>A
XR_929713.1:n.747C>A
XM_017014266.2:c.345C>A XP_016869755.1:p.Phe115Leu
XR_001746183.1:n.743C>A
NM_000093.5:c.345C>A MANE Select NP_000084.3:p.Phe115Leu