Canonical Allele Identifier: CA413852485

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108681883T>A , CM000685.2:g.108681883T>A	GRCh38
NC_000023.10:g.107925113T>A , CM000685.1:g.107925113T>A	GRCh37
NC_000023.9:g.107811769T>A	NCBI36
NG_011977.1:g.246960T>A
NG_011977.2:g.246960T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_033380.3:c.4211T>A MANE Select	NP_203699.1:p.Leu1404Ter
ENST00000328300.11:c.4211T>A MANE Select	ENSP00000331902.7:p.Leu1404Ter
NM_000495.4:c.4193T>A	NP_000486.1:p.Leu1398Ter
NM_000495.5:c.4193T>A	NP_000486.1:p.Leu1398Ter
NM_033380.2:c.4211T>A	NP_203699.1:p.Leu1404Ter
ENST00000328300.10:c.4211T>A	ENSP00000331902.6:p.Leu1404Ter
ENST00000361603.6:c.4193T>A	ENSP00000354505.2:p.Leu1398Ter
ENST00000361603.7:c.4193T>A	ENSP00000354505.2:p.Leu1398Ter
ENST00000489230.1:n.614T>A
ENST00000510690.2:n.705T>A
ENST00000515658.1:c.7T>A
XM_005262070.2:c.4202T>A	XP_005262127.1:p.Leu1401Ter
XM_006724616.2:c.4211T>A	XP_006724679.1:p.Leu1404Ter
XM_011530849.1:c.3887T>A	XP_011529151.1:p.Leu1296Ter
XM_011530849.2:c.4226T>A	XP_011529151.2:p.Leu1409Ter
XM_011530851.1:c.1784T>A	XP_011529153.1:p.Leu595Ter
XM_017029259.2:c.4217T>A	XP_016884748.1:p.Leu1406Ter
XM_017029260.1:c.4208T>A	XP_016884749.1:p.Leu1403Ter
XM_017029263.2:c.2546T>A	XP_016884752.1:p.Leu849Ter