Canonical Allele Identifier: CA2579677054

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108680629C>T , CM000685.2:g.108680629C>T	GRCh38
NC_000023.10:g.107923859C>T , CM000685.1:g.107923859C>T	GRCh37
NC_000023.9:g.107810515C>T	NCBI36
NG_011977.1:g.245706C>T
NG_011977.2:g.245706C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.3943-50C>T MANE Select	ENSP00000331902.7:n.3943-50C>T
ENST00000361603.7:c.3925-50C>T	ENSP00000354505.2:n.3925-50C>T
ENST00000510690.2:n.437-50C>T
ENST00000328300.10:c.3943-50C>T	ENSP00000331902.6:n.3943-50C>T
ENST00000361603.6:c.3925-50C>T	ENSP00000354505.2:n.3925-50C>T
ENST00000489230.1:n.346-50C>T
NM_000495.4:c.3925-50C>T	NP_000486.1:n.3925-50C>T
NM_033380.2:c.3943-50C>T	NP_203699.1:n.3943-50C>T
XM_005262070.2:c.3934-50C>T	XP_005262127.1:n.3934-50C>T
XM_006724616.2:c.3943-50C>T	XP_006724679.1:n.3943-50C>T
XM_011530849.1:c.3619-50C>T	XP_011529151.1:n.3619-50C>T
XM_011530851.1:c.1516-50C>T	XP_011529153.1:n.1516-50C>T
XM_011530849.2:c.3958-50C>T	XP_011529151.2:n.3958-50C>T
XM_017029259.2:c.3949-50C>T	XP_016884748.1:n.3949-50C>T
XM_017029260.1:c.3940-50C>T	XP_016884749.1:n.3940-50C>T
XM_017029261.1:c.*365C>T	XP_016884750.1:n.*365C>T
XM_017029263.2:c.2278-50C>T	XP_016884752.1:n.2278-50C>T
NM_000495.5:c.3925-50C>T	NP_000486.1:n.3925-50C>T
NM_033380.3:c.3943-50C>T MANE Select	NP_203699.1:n.3943-50C>T