Canonical Allele Identifier: CA375444095
Gene: COL5A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.137642703C>A (hg19) chr9:g.134750857C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134750857C>A , CM000671.2:g.134750857C>A GRCh38
NC_000009.11:g.137642703C>A , CM000671.1:g.137642703C>A GRCh37
NC_000009.10:g.136782524C>A NCBI36
NG_008030.1:g.114052C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.1637C>A ENSP00000360885.4:p.Ala546Glu
ENST00000371817.8:c.1637C>A MANE Select ENSP00000360882.3:p.Ala546Glu
ENST00000371817.7:c.1637C>A ENSP00000360882.3:p.Ala546Glu
ENST00000618395.4:c.1637C>A ENSP00000481360.1:p.Ala546Glu
NM_000093.4:c.1637C>A NP_000084.3:p.Ala546Glu
NM_001278074.1:c.1637C>A NP_001265003.1:p.Ala546Glu
XR_929712.1:n.2039C>A
XR_929713.1:n.2039C>A
XM_017014266.2:c.1637C>A XP_016869755.1:p.Ala546Glu
XR_001746183.1:n.2035C>A
NM_000093.5:c.1637C>A MANE Select NP_000084.3:p.Ala546Glu
Search 100 bp 5'
Search 100 bp 3'