Canonical Allele Identifier: CA375442494

Gene: COL5A1

Linked Data

• MyVariant Identifiers: chr9:g.137591791C>G (hg19) ; chr9:g.134699945C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000371820.4:c.314C>G	ENSP00000360885.4:p.Thr105Ser
ENST00000371817.8:c.314C>G MANE Select	ENSP00000360882.3:p.Thr105Ser
ENST00000371817.7:c.314C>G	ENSP00000360882.3:p.Thr105Ser
ENST00000464187.1:n.736C>G
ENST00000618395.4:c.314C>G	ENSP00000481360.1:p.Thr105Ser
NM_000093.4:c.314C>G	NP_000084.3:p.Thr105Ser
NM_001278074.1:c.314C>G	NP_001265003.1:p.Thr105Ser
XR_929712.1:n.716C>G
XR_929713.1:n.716C>G
XM_017014266.2:c.314C>G	XP_016869755.1:p.Thr105Ser
XR_001746183.1:n.712C>G
NM_000093.5:c.314C>G MANE Select	NP_000084.3:p.Thr105Ser