Canonical Allele Identifier: CA413852042

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107925031A>T (hg19) ; chrX:g.108681801A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108681801A>T , CM000685.2:g.108681801A>T	GRCh38
NC_000023.10:g.107925031A>T , CM000685.1:g.107925031A>T	GRCh37
NC_000023.9:g.107811687A>T	NCBI36
NG_011977.1:g.246878A>T
NG_011977.2:g.246878A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4129A>T MANE Select	ENSP00000331902.7:p.Ile1377Phe
ENST00000361603.7:c.4111A>T	ENSP00000354505.2:p.Ile1371Phe
ENST00000510690.2:n.623A>T
ENST00000328300.10:c.4129A>T	ENSP00000331902.6:p.Ile1377Phe
ENST00000361603.6:c.4111A>T	ENSP00000354505.2:p.Ile1371Phe
ENST00000489230.1:n.532A>T
NM_000495.4:c.4111A>T	NP_000486.1:p.Ile1371Phe
NM_033380.2:c.4129A>T	NP_203699.1:p.Ile1377Phe
XM_005262070.2:c.4120A>T	XP_005262127.1:p.Ile1374Phe
XM_006724616.2:c.4129A>T	XP_006724679.1:p.Ile1377Phe
XM_011530849.1:c.3805A>T	XP_011529151.1:p.Ile1269Phe
XM_011530851.1:c.1702A>T	XP_011529153.1:p.Ile568Phe
XM_011530849.2:c.4144A>T	XP_011529151.2:p.Ile1382Phe
XM_017029259.2:c.4135A>T	XP_016884748.1:p.Ile1379Phe
XM_017029260.1:c.4126A>T	XP_016884749.1:p.Ile1376Phe
XM_017029263.2:c.2464A>T	XP_016884752.1:p.Ile822Phe
NM_000495.5:c.4111A>T	NP_000486.1:p.Ile1371Phe
NM_033380.3:c.4129A>T MANE Select	NP_203699.1:p.Ile1377Phe