Canonical Allele Identifier: CA413855344

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107936013A>C (hg19) ; chrX:g.108692783A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108692783A>C , CM000685.2:g.108692783A>C	GRCh38
NC_000023.10:g.107936013A>C , CM000685.1:g.107936013A>C	GRCh37
NC_000023.9:g.107822669A>C	NCBI36
NG_011977.1:g.257860A>C
NG_011977.2:g.257860A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4564A>C MANE Select	ENSP00000331902.7:p.Met1522Leu
ENST00000361603.7:c.4546A>C	ENSP00000354505.2:p.Met1516Leu
ENST00000510690.2:n.1058A>C
ENST00000328300.10:c.4564A>C	ENSP00000331902.6:p.Met1522Leu
ENST00000361603.6:c.4546A>C	ENSP00000354505.2:p.Met1516Leu
ENST00000515658.1:c.325-3514A>C
NM_000495.4:c.4546A>C	NP_000486.1:p.Met1516Leu
NM_033380.2:c.4564A>C	NP_203699.1:p.Met1522Leu
XM_005262070.2:c.4555A>C	XP_005262127.1:p.Met1519Leu
XM_006724616.2:c.4564A>C	XP_006724679.1:p.Met1522Leu
XM_011530849.1:c.4240A>C	XP_011529151.1:p.Met1414Leu
XM_011530851.1:c.2137A>C	XP_011529153.1:p.Met713Leu
XM_011530849.2:c.4579A>C	XP_011529151.2:p.Met1527Leu
XM_017029259.2:c.4570A>C	XP_016884748.1:p.Met1524Leu
XM_017029260.1:c.4561A>C	XP_016884749.1:p.Met1521Leu
XM_017029263.2:c.2899A>C	XP_016884752.1:p.Met967Leu
NM_000495.5:c.4546A>C	NP_000486.1:p.Met1516Leu
NM_033380.3:c.4564A>C MANE Select	NP_203699.1:p.Met1522Leu