Canonical Allele Identifier: CA2579677152

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108687438C>T , CM000685.2:g.108687438C>T	GRCh38
NC_000023.10:g.107930668C>T , CM000685.1:g.107930668C>T	GRCh37
NC_000023.9:g.107817324C>T	NCBI36
NG_011977.1:g.252515C>T
NG_011977.2:g.252515C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4316-44C>T MANE Select	ENSP00000331902.7:n.4316-44C>T
ENST00000361603.7:c.4298-44C>T	ENSP00000354505.2:n.4298-44C>T
ENST00000510690.2:n.810-44C>T
ENST00000328300.10:c.4316-44C>T	ENSP00000331902.6:n.4316-44C>T
ENST00000361603.6:c.4298-44C>T	ENSP00000354505.2:n.4298-44C>T
ENST00000489230.1:n.719-44C>T
ENST00000515658.1:c.112-44C>T
NM_000495.4:c.4298-44C>T	NP_000486.1:n.4298-44C>T
NM_033380.2:c.4316-44C>T	NP_203699.1:n.4316-44C>T
XM_005262070.2:c.4307-44C>T	XP_005262127.1:n.4307-44C>T
XM_006724616.2:c.4316-44C>T	XP_006724679.1:n.4316-44C>T
XM_011530849.1:c.3992-44C>T	XP_011529151.1:n.3992-44C>T
XM_011530851.1:c.1889-44C>T	XP_011529153.1:n.1889-44C>T
XM_011530849.2:c.4331-44C>T	XP_011529151.2:n.4331-44C>T
XM_017029259.2:c.4322-44C>T	XP_016884748.1:n.4322-44C>T
XM_017029260.1:c.4313-44C>T	XP_016884749.1:n.4313-44C>T
XM_017029263.2:c.2651-44C>T	XP_016884752.1:n.2651-44C>T
NM_000495.5:c.4298-44C>T	NP_000486.1:n.4298-44C>T
NM_033380.3:c.4316-44C>T MANE Select	NP_203699.1:n.4316-44C>T