Canonical Allele Identifier: CA869801266

Gene: COL4A5

Linked Data

• dbSNP Id: rs1195479418
• MyVariant Identifiers: chrX:g.107683562C>T (hg19) ; chrX:g.108440332C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108440332C>T , CM000685.2:g.108440332C>T	GRCh38
NC_000023.10:g.107683562C>T , CM000685.1:g.107683562C>T	GRCh37
NC_000023.9:g.107570218C>T	NCBI36
NG_011977.1:g.5409C>T
NG_012059.2:g.4143G>A
NG_011977.2:g.5409C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.81+126C>T MANE Select	ENSP00000331902.7:n.81+126C>T
ENST00000361603.7:c.81+126C>T	ENSP00000354505.2:n.81+126C>T
ENST00000642185.1:c.82-9C>T	ENSP00000495101.1:n.82-9C>T
ENST00000328300.10:c.81+126C>T	ENSP00000331902.6:n.81+126C>T
ENST00000361603.6:c.81+126C>T	ENSP00000354505.2:n.81+126C>T
ENST00000470339.1:n.265+126C>T
ENST00000477429.1:n.363+126C>T
NM_000495.4:c.81+126C>T	NP_000486.1:n.81+126C>T
NM_033380.2:c.81+126C>T	NP_203699.1:n.81+126C>T
XM_005262070.2:c.81+126C>T	XP_005262127.1:n.81+126C>T
XM_005262072.3:c.81+126C>T	XP_005262129.1:n.81+126C>T
XM_006724616.2:c.81+126C>T	XP_006724679.1:n.81+126C>T
XM_011530850.1:c.81+126C>T	XP_011529152.1:n.81+126C>T
NM_000495.5:c.81+126C>T	NP_000486.1:n.81+126C>T
NM_033380.3:c.81+126C>T MANE Select	NP_203699.1:n.81+126C>T