Canonical Allele Identifier: CA375442498

Gene: COL5A1

Linked Data

• dbSNP Id: rs767266957
• gnomAD v3: 9-134699945-C-T
• gnomAD v4: 9-134699945-C-T
• MyVariant Identifiers: chr9:g.137591791C>T (hg19) ; chr9:g.134699945C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134699945C>T , CM000671.2:g.134699945C>T	GRCh38
NC_000009.11:g.137591791C>T , CM000671.1:g.137591791C>T	GRCh37
NC_000009.10:g.136731612C>T	NCBI36
NG_008030.1:g.63140C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.314C>T	ENSP00000360885.4:p.Thr105Ile
ENST00000371817.8:c.314C>T MANE Select	ENSP00000360882.3:p.Thr105Ile
ENST00000371817.7:c.314C>T	ENSP00000360882.3:p.Thr105Ile
ENST00000464187.1:n.736C>T
ENST00000618395.4:c.314C>T	ENSP00000481360.1:p.Thr105Ile
NM_000093.4:c.314C>T	NP_000084.3:p.Thr105Ile
NM_001278074.1:c.314C>T	NP_001265003.1:p.Thr105Ile
XR_929712.1:n.716C>T
XR_929713.1:n.716C>T
XM_017014266.2:c.314C>T	XP_016869755.1:p.Thr105Ile
XR_001746183.1:n.712C>T
NM_000093.5:c.314C>T MANE Select	NP_000084.3:p.Thr105Ile