Canonical Allele Identifier: CA413927045

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107824252A>T (hg19) ; chrX:g.108581022A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108581022A>T , CM000685.2:g.108581022A>T	GRCh38
NC_000023.10:g.107824252A>T , CM000685.1:g.107824252A>T	GRCh37
NC_000023.9:g.107710908A>T	NCBI36
NG_011977.1:g.146099A>T
NG_011977.2:g.146099A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.931A>T MANE Select	ENSP00000331902.7:p.Ile311Phe
ENST00000361603.7:c.931A>T	ENSP00000354505.2:p.Ile311Phe
ENST00000328300.10:c.931A>T	ENSP00000331902.6:p.Ile311Phe
ENST00000361603.6:c.931A>T	ENSP00000354505.2:p.Ile311Phe
NM_000495.4:c.931A>T	NP_000486.1:p.Ile311Phe
NM_033380.2:c.931A>T	NP_203699.1:p.Ile311Phe
XM_005262070.2:c.931A>T	XP_005262127.1:p.Ile311Phe
XM_005262072.3:c.931A>T	XP_005262129.1:p.Ile311Phe
XM_006724616.2:c.931A>T	XP_006724679.1:p.Ile311Phe
XM_011530849.1:c.607A>T	XP_011529151.1:p.Ile203Phe
XM_011530850.1:c.931A>T	XP_011529152.1:p.Ile311Phe
XM_011530849.2:c.946A>T	XP_011529151.2:p.Ile316Phe
XM_017029259.2:c.946A>T	XP_016884748.1:p.Ile316Phe
XM_017029260.1:c.946A>T	XP_016884749.1:p.Ile316Phe
XM_017029261.1:c.946A>T	XP_016884750.1:p.Ile316Phe
XM_017029262.2:c.946A>T	XP_016884751.1:p.Ile316Phe
NM_000495.5:c.931A>T	NP_000486.1:p.Ile311Phe
NM_033380.3:c.931A>T MANE Select	NP_203699.1:p.Ile311Phe