Canonical Allele Identifier: CA375458700

Gene: COL5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134824807G>T , CM000671.2:g.134824807G>T	GRCh38
NC_000009.11:g.137716653G>T , CM000671.1:g.137716653G>T	GRCh37
NC_000009.10:g.136856474G>T	NCBI36
NG_008030.1:g.188002G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000093.5:c.4906G>T MANE Select	NP_000084.3:p.Ala1636Ser
ENST00000371817.8:c.4906G>T MANE Select	ENSP00000360882.3:p.Ala1636Ser
NM_000093.4:c.4906G>T	NP_000084.3:p.Ala1636Ser
NM_001278074.1:c.4906G>T	NP_001265003.1:p.Ala1636Ser
NR_103451.2:n.71-4598C>A
ENST00000371817.7:c.4906G>T	ENSP00000360882.3:p.Ala1636Ser
ENST00000371820.3:c.164G>T
ENST00000371820.4:c.4906G>T	ENSP00000360885.4:p.Ala1636Ser
ENST00000460264.5:n.374G>T
ENST00000465877.1:n.86G>T
ENST00000618395.4:c.4906G>T	ENSP00000481360.1:p.Ala1636Ser
XM_017014266.2:c.4906G>T	XP_016869755.1:p.Ala1636Ser
XR_001746183.1:n.5304G>T
XR_929712.1:n.5308G>T
XR_929713.1:n.5308G>T