Canonical Allele Identifier: CA375440401

Gene: COL5A1

Linked Data

• dbSNP Id: rs1393560967
• gnomAD v2: 9-137582809-G-C
• gnomAD v4: 9-134690963-G-C
• MyVariant Identifiers: chr9:g.137582809G>C (hg19) ; chr9:g.134690963G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134690963G>C , CM000671.2:g.134690963G>C	GRCh38
NC_000009.11:g.137582809G>C , CM000671.1:g.137582809G>C	GRCh37
NC_000009.10:g.136722630G>C	NCBI36
NG_008030.1:g.54158G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.161G>C	ENSP00000360885.4:p.Gly54Ala
ENST00000371817.8:c.161G>C MANE Select	ENSP00000360882.3:p.Gly54Ala
ENST00000371817.7:c.161G>C	ENSP00000360882.3:p.Gly54Ala
ENST00000464187.1:n.347G>C
ENST00000618395.4:c.161G>C	ENSP00000481360.1:p.Gly54Ala
NM_000093.4:c.161G>C	NP_000084.3:p.Gly54Ala
NM_001278074.1:c.161G>C	NP_001265003.1:p.Gly54Ala
XR_929712.1:n.563G>C
XR_929713.1:n.563G>C
XM_017014266.2:c.161G>C	XP_016869755.1:p.Gly54Ala
XR_001746183.1:n.559G>C
NM_000093.5:c.161G>C MANE Select	NP_000084.3:p.Gly54Ala