Canonical Allele Identifier: CA413850288

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108677541G>T , CM000685.2:g.108677541G>T	GRCh38
NC_000023.10:g.107920771G>T , CM000685.1:g.107920771G>T	GRCh37
NC_000023.9:g.107807427G>T	NCBI36
NG_011977.1:g.242618G>T
NG_011977.2:g.242618G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_033380.3:c.3850G>T MANE Select	NP_203699.1:p.Gly1284Ter
ENST00000328300.11:c.3850G>T MANE Select	ENSP00000331902.7:p.Gly1284Ter
NM_000495.4:c.3832G>T	NP_000486.1:p.Gly1278Ter
NM_000495.5:c.3832G>T	NP_000486.1:p.Gly1278Ter
NM_033380.2:c.3850G>T	NP_203699.1:p.Gly1284Ter
ENST00000328300.10:c.3850G>T	ENSP00000331902.6:p.Gly1284Ter
ENST00000361603.6:c.3832G>T	ENSP00000354505.2:p.Gly1278Ter
ENST00000361603.7:c.3832G>T	ENSP00000354505.2:p.Gly1278Ter
ENST00000489230.1:n.253G>T
ENST00000510690.1:n.344G>T
ENST00000510690.2:n.344G>T
XM_005262070.2:c.3841G>T	XP_005262127.1:p.Gly1281Ter
XM_006724616.2:c.3850G>T	XP_006724679.1:p.Gly1284Ter
XM_011530849.1:c.3526G>T	XP_011529151.1:p.Gly1176Ter
XM_011530849.2:c.3865G>T	XP_011529151.2:p.Gly1289Ter
XM_011530851.1:c.1423G>T	XP_011529153.1:p.Gly475Ter
XM_017029259.2:c.3856G>T	XP_016884748.1:p.Gly1286Ter
XM_017029260.1:c.3847G>T	XP_016884749.1:p.Gly1283Ter
XM_017029261.1:c.3865G>T	XP_016884750.1:p.Gly1289Ter
XM_017029263.2:c.2185G>T	XP_016884752.1:p.Gly729Ter