Canonical Allele Identifier: CA414132624

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107938150T>C (hg19) ; chrX:g.108694920T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108694920T>C , CM000685.2:g.108694920T>C	GRCh38
NC_000023.10:g.107938150T>C , CM000685.1:g.107938150T>C	GRCh37
NC_000023.9:g.107824806T>C	NCBI36
NG_011977.1:g.259997T>C
NG_011977.2:g.259997T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4820T>C MANE Select	ENSP00000331902.7:p.Met1607Thr
ENST00000361603.7:c.4802T>C	ENSP00000354505.2:p.Met1601Thr
ENST00000510690.2:n.1314T>C
ENST00000644079.1:n.1306T>C
ENST00000328300.10:c.4820T>C	ENSP00000331902.6:p.Met1607Thr
ENST00000361603.6:c.4802T>C	ENSP00000354505.2:p.Met1601Thr
ENST00000504541.1:c.218T>C	ENSP00000424845.1:p.Met73Thr
ENST00000515658.1:c.325-1377T>C
NM_000495.4:c.4802T>C	NP_000486.1:p.Met1601Thr
NM_033380.2:c.4820T>C	NP_203699.1:p.Met1607Thr
XM_005262070.2:c.4811T>C	XP_005262127.1:p.Met1604Thr
XM_006724616.2:c.4820T>C	XP_006724679.1:p.Met1607Thr
XM_011530849.1:c.4496T>C	XP_011529151.1:p.Met1499Thr
XM_011530851.1:c.2393T>C	XP_011529153.1:p.Met798Thr
XM_011530849.2:c.4835T>C	XP_011529151.2:p.Met1612Thr
XM_017029259.2:c.4826T>C	XP_016884748.1:p.Met1609Thr
XM_017029260.1:c.4817T>C	XP_016884749.1:p.Met1606Thr
XM_017029263.2:c.3155T>C	XP_016884752.1:p.Met1052Thr
NM_000495.5:c.4802T>C	NP_000486.1:p.Met1601Thr
NM_033380.3:c.4820T>C MANE Select	NP_203699.1:p.Met1607Thr