Canonical Allele Identifier: CA375451193
Gene: COL5A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134731631A>T , CM000671.2:g.134731631A>T GRCh38
NC_000009.11:g.137623477A>T , CM000671.1:g.137623477A>T GRCh37
NC_000009.10:g.136763298A>T NCBI36
NG_008030.1:g.94826A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.1300A>T ENSP00000360885.4:p.Met434Leu
ENST00000371817.8:c.1300A>T MANE Select ENSP00000360882.3:p.Met434Leu
ENST00000371817.7:c.1300A>T ENSP00000360882.3:p.Met434Leu
ENST00000469093.1:n.39A>T
ENST00000618395.4:c.1300A>T ENSP00000481360.1:p.Met434Leu
NM_000093.4:c.1300A>T NP_000084.3:p.Met434Leu
NM_001278074.1:c.1300A>T NP_001265003.1:p.Met434Leu
XR_929712.1:n.1702A>T
XR_929713.1:n.1702A>T
XM_017014266.2:c.1300A>T XP_016869755.1:p.Met434Leu
XR_001746183.1:n.1698A>T
NM_000093.5:c.1300A>T MANE Select NP_000084.3:p.Met434Leu