Canonical Allele Identifier: CA375461752

Gene: COL5A1

Linked Data

• gnomAD v4: 9-134842174-G-T
• MyVariant Identifiers: chr9:g.137734020G>T (hg19) ; chr9:g.134842174G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134842174G>T , CM000671.2:g.134842174G>T	GRCh38
NC_000009.11:g.137734020G>T , CM000671.1:g.137734020G>T	GRCh37
NC_000009.10:g.136873841G>T	NCBI36
NG_008030.1:g.205369G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000371820.4:c.5388G>T	ENSP00000360885.4:p.Gln1796His
ENST00000371817.8:c.5388G>T MANE Select	ENSP00000360882.3:p.Gln1796His
ENST00000371817.7:c.5388G>T	ENSP00000360882.3:p.Gln1796His
ENST00000618395.4:c.5388G>T	ENSP00000481360.1:p.Gln1796His
NM_000093.4:c.5388G>T	NP_000084.3:p.Gln1796His
NM_001278074.1:c.5388G>T	NP_001265003.1:p.Gln1796His
NR_103451.2:n.71-21965C>A
NM_000093.5:c.5388G>T MANE Select	NP_000084.3:p.Gln1796His