Canonical Allele Identifier: CA360626091

Gene: MCC

Linked Data

• MyVariant Identifiers: chr5:g.112399720A>G (hg19) ; chr5:g.113064023A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.113064023A>G , CM000667.2:g.113064023A>G	GRCh38
NC_000005.9:g.112399720A>G , CM000667.1:g.112399720A>G	GRCh37
NC_000005.8:g.112427619A>G	NCBI36
NG_012265.1:g.429808T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000302475.9:c.1604T>C	ENSP00000305617.4:p.Val535Ala
ENST00000408903.7:c.2174T>C MANE Select	ENSP00000386227.3:p.Val725Ala
ENST00000302475.8:c.1604T>C	ENSP00000305617.4:p.Val535Ala
ENST00000408903.6:c.2174T>C	ENSP00000386227.3:p.Val725Ala
ENST00000514701.5:c.1604T>C	ENSP00000485220.1:p.Val535Ala
ENST00000515367.6:c.1415T>C	ENSP00000421615.2:p.Val472Ala
ENST00000624689.3:c.18T>C
NM_001085377.1:c.2174T>C	NP_001078846.1:p.Val725Ala
NM_002387.2:c.1604T>C	NP_002378.1:p.Val535Ala
XM_005271991.2:c.1604T>C	XP_005272048.1:p.Val535Ala
XM_005271991.3:c.1604T>C	XP_005272048.1:p.Val535Ala
XM_017009473.1:c.2174T>C	XP_016864962.1:p.Val725Ala
XM_017009474.1:c.1574T>C	XP_016864963.1:p.Val525Ala
XM_024446049.1:c.1415T>C	XP_024301817.1:p.Val472Ala
XM_024446050.1:c.1415T>C	XP_024301818.1:p.Val472Ala
XM_024446051.1:c.1415T>C	XP_024301819.1:p.Val472Ala
XM_024446052.1:c.1415T>C	XP_024301820.1:p.Val472Ala
NM_001085377.2:c.2174T>C MANE Select	NP_001078846.2:p.Val725Ala
NM_002387.3:c.1604T>C	NP_002378.2:p.Val535Ala