Canonical Allele Identifier: CA413852317

Gene: COL4A5

Linked Data

• dbSNP Id: rs2068437591
• MyVariant Identifiers: chrX:g.107925080A>T (hg19) ; chrX:g.108681850A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108681850A>T , CM000685.2:g.108681850A>T	GRCh38
NC_000023.10:g.107925080A>T , CM000685.1:g.107925080A>T	GRCh37
NC_000023.9:g.107811736A>T	NCBI36
NG_011977.1:g.246927A>T
NG_011977.2:g.246927A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4178A>T MANE Select	ENSP00000331902.7:p.Lys1393Met
ENST00000361603.7:c.4160A>T	ENSP00000354505.2:p.Lys1387Met
ENST00000510690.2:n.672A>T
ENST00000328300.10:c.4178A>T	ENSP00000331902.6:p.Lys1393Met
ENST00000361603.6:c.4160A>T	ENSP00000354505.2:p.Lys1387Met
ENST00000489230.1:n.581A>T
NM_000495.4:c.4160A>T	NP_000486.1:p.Lys1387Met
NM_033380.2:c.4178A>T	NP_203699.1:p.Lys1393Met
XM_005262070.2:c.4169A>T	XP_005262127.1:p.Lys1390Met
XM_006724616.2:c.4178A>T	XP_006724679.1:p.Lys1393Met
XM_011530849.1:c.3854A>T	XP_011529151.1:p.Lys1285Met
XM_011530851.1:c.1751A>T	XP_011529153.1:p.Lys584Met
XM_011530849.2:c.4193A>T	XP_011529151.2:p.Lys1398Met
XM_017029259.2:c.4184A>T	XP_016884748.1:p.Lys1395Met
XM_017029260.1:c.4175A>T	XP_016884749.1:p.Lys1392Met
XM_017029263.2:c.2513A>T	XP_016884752.1:p.Lys838Met
NM_000495.5:c.4160A>T	NP_000486.1:p.Lys1387Met
NM_033380.3:c.4178A>T MANE Select	NP_203699.1:p.Lys1393Met