Canonical Allele Identifier: CA467654482

Gene: COL5A1

Linked Data

• MyVariant Identifiers: chr9:g.137591789A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134699943A>C , CM000671.2:g.134699943A>C	GRCh38
NC_000009.11:g.137591789A>C , CM000671.1:g.137591789A>C	GRCh37
NC_000009.10:g.136731610A>C	NCBI36
NG_008030.1:g.63138A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.312A>C	ENSP00000360885.4:p.Thr104=
ENST00000371817.8:c.312A>C MANE Select	ENSP00000360882.3:p.Thr104=
ENST00000371817.7:c.312A>C	ENSP00000360882.3:p.Thr104=
ENST00000464187.1:n.734A>C
ENST00000618395.4:c.312A>C	ENSP00000481360.1:p.Thr104=
NM_000093.4:c.312A>C	NP_000084.3:p.Thr104=
NM_001278074.1:c.312A>C	NP_001265003.1:p.Thr104=
XR_929712.1:n.714A>C
XR_929713.1:n.714A>C
XM_017014266.2:c.312A>C	XP_016869755.1:p.Thr104=
XR_001746183.1:n.710A>C
NM_000093.5:c.312A>C MANE Select	NP_000084.3:p.Thr104=