Canonical Allele Identifier: CA413851093

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107924117A>T (hg19) ; chrX:g.108680887A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108680887A>T , CM000685.2:g.108680887A>T	GRCh38
NC_000023.10:g.107924117A>T , CM000685.1:g.107924117A>T	GRCh37
NC_000023.9:g.107810773A>T	NCBI36
NG_011977.1:g.245964A>T
NG_011977.2:g.245964A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4018A>T MANE Select	ENSP00000331902.7:p.Met1340Leu
ENST00000361603.7:c.4000A>T	ENSP00000354505.2:p.Met1334Leu
ENST00000510690.2:n.512A>T
ENST00000328300.10:c.4018A>T	ENSP00000331902.6:p.Met1340Leu
ENST00000361603.6:c.4000A>T	ENSP00000354505.2:p.Met1334Leu
ENST00000489230.1:n.421A>T
NM_000495.4:c.4000A>T	NP_000486.1:p.Met1334Leu
NM_033380.2:c.4018A>T	NP_203699.1:p.Met1340Leu
XM_005262070.2:c.4009A>T	XP_005262127.1:p.Met1337Leu
XM_006724616.2:c.4018A>T	XP_006724679.1:p.Met1340Leu
XM_011530849.1:c.3694A>T	XP_011529151.1:p.Met1232Leu
XM_011530851.1:c.1591A>T	XP_011529153.1:p.Met531Leu
XM_011530849.2:c.4033A>T	XP_011529151.2:p.Met1345Leu
XM_017029259.2:c.4024A>T	XP_016884748.1:p.Met1342Leu
XM_017029260.1:c.4015A>T	XP_016884749.1:p.Met1339Leu
XM_017029263.2:c.2353A>T	XP_016884752.1:p.Met785Leu
NM_000495.5:c.4000A>T	NP_000486.1:p.Met1334Leu
NM_033380.3:c.4018A>T MANE Select	NP_203699.1:p.Met1340Leu