Canonical Allele Identifier: CA413850062

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107920733T>C (hg19) ; chrX:g.108677503T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108677503T>C , CM000685.2:g.108677503T>C	GRCh38
NC_000023.10:g.107920733T>C , CM000685.1:g.107920733T>C	GRCh37
NC_000023.9:g.107807389T>C	NCBI36
NG_011977.1:g.242580T>C
NG_011977.2:g.242580T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.3812T>C MANE Select	ENSP00000331902.7:p.Leu1271Pro
ENST00000361603.7:c.3794T>C	ENSP00000354505.2:p.Leu1265Pro
ENST00000510690.2:n.306T>C
ENST00000328300.10:c.3812T>C	ENSP00000331902.6:p.Leu1271Pro
ENST00000361603.6:c.3794T>C	ENSP00000354505.2:p.Leu1265Pro
ENST00000489230.1:n.215T>C
ENST00000510690.1:n.306T>C
NM_000495.4:c.3794T>C	NP_000486.1:p.Leu1265Pro
NM_033380.2:c.3812T>C	NP_203699.1:p.Leu1271Pro
XM_005262070.2:c.3803T>C	XP_005262127.1:p.Leu1268Pro
XM_006724616.2:c.3812T>C	XP_006724679.1:p.Leu1271Pro
XM_011530849.1:c.3488T>C	XP_011529151.1:p.Leu1163Pro
XM_011530851.1:c.1385T>C	XP_011529153.1:p.Leu462Pro
XM_011530849.2:c.3827T>C	XP_011529151.2:p.Leu1276Pro
XM_017029259.2:c.3818T>C	XP_016884748.1:p.Leu1273Pro
XM_017029260.1:c.3809T>C	XP_016884749.1:p.Leu1270Pro
XM_017029261.1:c.3827T>C	XP_016884750.1:p.Leu1276Pro
XM_017029263.2:c.2147T>C	XP_016884752.1:p.Leu716Pro
NM_000495.5:c.3794T>C	NP_000486.1:p.Leu1265Pro
NM_033380.3:c.3812T>C MANE Select	NP_203699.1:p.Leu1271Pro